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The search results on this publication page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.
Undiagnosed Diseases (237)
| Publication Title | Authors | Journal | Publication Date | Page No | PubMedID |
|---|---|---|---|---|---|
| Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. | Hwang, Kyu-Baek; Lee, In-Hee; Li, Honglan; Won, Dhong-Geon; Hernandez-Ferrer, Carles; Negron, Jose Alberto; Kong, Sek Won | Scientific reports. | 2019 Mar 01; | 30824715 | |
| Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola, Débora; Yamamoto, Guilherme L; Baratela, Wagner A R; Butler, Merlin G; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H; Krakow, Deborah; Jackson, Andrew P; Lees, Melissa; Offiah, Amaka C; Carlston, Colleen M; Carey, John C; Stewart, Grant S; Bacino, Carlos A; Campeau, Philippe M; Lee, Brendan | American journal of human genetics. | 2019 Mar 07; | 30773277 | |
| Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. | Deal, Samantha L; Yamamoto, Shinya | Frontiers in genetics. | 2018; | 30693015 | |
| Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. | Macnamara, Ellen F; Schoch, Kelly; Kelley, Emily G; Fieg, Elizabeth; Brokamp, Elly; Undiagnosed Diseases Network; Signer, Rebecca; LeBlanc, Kimberly; McConkie-Rosell, Allyn; Palmer, Christina G S | Journal of genetic counseling. | 2019 Jan 24; | 30680851 | |
| Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. | Li, Chong; Bademci, Guney; Subasioglu, Asli; Diaz-Horta, Oscar; Zhu, Yi; Liu, Jiaqi; Mitchell, Timothy Gavin; Abad, Clemer; Seyhan, Serhat; Duman, Duygu; Cengiz, Filiz Basak; Tokgoz-Yilmaz, Suna; Blanton, Susan H; Farooq, Amjad; Walz, Katherina; Zhai, R Grace; Tekin, Mustafa | Proceedings of the National Academy of Sciences of the United States of America. | 2019 Jan 22; | 30610177 | |
| Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. | Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; Burke, John D; Herzog, Matthew; Shukla, Anju; Steindl, Katharina; Eskin, Ascia; Patil, Siddaramappa J; Joset, Pascal; Lee, Hane; Garrett, Lisa J; Yokoyama, Tadafumi; Balanda, Nicholas; Bodine, Steven P; Tolman, Nathanial J; Zerfas, Patricia M; Zheng, Allison; Ramantani, Georgia; Girisha, Katta M; Rivas, Cecilia; Suresh, Pujar V; Elkahloun, Abdel; Alsaif, Hessa S; Wakil, Salma M; Mahmoud, Laila; Ali, Rehab; Prochazkova, Michaela; Undiagnosed Diseases Network members; Kulkarni, Ashok B; Ben-Omran, Tawfeg; Colak, Dilek; Morris, H Douglas; Rauch, Anita; Martinez-Agosto, Julian A; Nelson, Stanley F; Alkuraya, Fowzan S; Gahl, William A; Malicdan, May Christine V | American journal of human genetics. | 2018 Dec 06; | 30526868 | |
| Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. | Ng, Bobby G; Rosenfeld, Jill A; Emrick, Lisa; Jain, Mahim; Burrage, Lindsay C; Lee, Brendan; Undiagnosed Diseases Network; Craigen, William J; Bearden, David R; Graham, Brett H; Freeze, Hudson H | American journal of human genetics. | 2018 Dec 06; | 30503518 | |
| Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. | Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; Mohassel, Payam; Foley, A Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G; Wentzensen, Ingrid M; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S; Goldstein, David B; Undiagnosed Diseases Network; Schoser, Benedikt; Rösler, Kai M; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M; Kamsteeg, Erik-Jan; Bönnemann, Carsten G; Gleeson, Joseph G; Martini, Rudolf; Janke, Carsten; Senderek, Jan | The EMBO journal. | 2018 Dec 03; | 30420557 | |
| Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. | Han C, O’Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. | Am J Med Genet A. | 2018 Oct 4 | 30369044 | |
| Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. | Wang, Xia; Posey, Jennifer E; Rosenfeld, Jill A; Bacino, Carlos A; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M; Hickey, Scott E; Mosher, Theresa M; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y; Jiang, Yunyun; Darilek, Sandra A; Hansen, Adam W; Khayat, Michael M; Pehlivan, Davut; Piard, Juliette; Muzny, Donna M; Hanchard, Neil; Belmont, John W; Van Maldergem, Lionel; Gibbs, Richard A; Eldomery, Mohammad K; Akdemir, Zeynep C; Adesina, Adekunle M; Chen, Shan; Lee, Yi-Chien; Undiagnosed Diseases Network; Lee, Brendan; Lupski, James R; Eng, Christine M; Xia, Fan; Yang, Yaping; Graham, Brett H; Moretti, Paolo | Annals of clinical and translational neurology. | 2018 Oct; | 30349862 | |
| Inflammation, Immunity, and Infection in Atherothrombosis: JACC Review Topic of the Week. | Libby, Peter; Loscalzo, Joseph; Ridker, Paul M; Farkouh, Michael E; Hsue, Priscilla Y; Fuster, Valentin; Hasan, Ahmed A; Amar, Salomon | Journal of the American College of Cardiology. | 2018 Oct 23; | 30336831 | |
| Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. | Splinter, Kimberly; Adams, David R; Bacino, Carlos A; Bellen, Hugo J; Bernstein, Jonathan A; Cheatle-Jarvela, Alys M; Eng, Christine M; Esteves, Cecilia; Gahl, William A; Hamid, Rizwan; Jacob, Howard J; Kikani, Bijal; Koeller, David M; Kohane, Isaac S; Lee, Brendan H; Loscalzo, Joseph; Luo, Xi; McCray, Alexa T; Metz, Thomas O; Mulvihill, John J; Nelson, Stanley F; Palmer, Christina G S; Phillips 3rd, John A; Pick, Leslie; Postlethwait, John H; Reuter, Chloe; Shashi, Vandana; Sweetser, David A; Tifft, Cynthia J; Walley, Nicole M; Wangler, Michael F; Westerfield, Monte; Wheeler, Matthew T; Wise, Anastasia L; Worthey, Elizabeth A; Yamamoto, Shinya; Ashley, Euan A; Undiagnosed Diseases Network | The New England journal of medicine. | 2018 11 29; | 30304647 | |
| A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Ferreira, Carlos R; Xia, Zhi-Jie; Clément, Aurélie; Parry, David A; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T; Blanco-Sánchez, Bernardo; Ng, Bobby G; Logan, Clare V; Wolfe, Lynne A; Solomon, Benjamin D; Cho, Megan T; Douglas, Ga | American journal of human genetics. | 2018 Oct 04; | 30290151 | |
| Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals. | Clément, Aurélie; Blanco-Sánchez, Bernardo; Peirce, Judy L; Westerfield, Monte | Mechanisms of development. | 2018 Oct 01; | 30287385 | |
| Next-generation sequencing to diagnose suspected genetic disorders. | Adams DR, Eng CM. | N Engl J Med | 2018 Oct 4 | 30281996 | |
| GAPDH inhibits intracellular pathways during starvation for cellular energy homeostasis. | Yang, Jia-Shu; Hsu, Jia-Wei; Park, Seung-Yeol; Li, Jian; Oldham, William M; Beznoussenko, Galina V; Mironov, Alexander A; Loscalzo, Joseph; Hsu, Victor W | Nature. | ; | 30209366 | |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham Jr, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M | American journal of human genetics. | 2018 Sep 06; | 30193138 | |
| Characteristics of undiagnosed diseases network applicants: implications for referring providers. | Walley, Nicole M; Pena, Loren D M; Hooper, Stephen R; Cope, Heidi; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Sanders, Camilla; Schoch, Kelly; Spillmann, Rebecca C; Strong, Kimberly; McCray, Alexa T; Mazur, Paul; Esteves, Cecilia; LeBlanc, Kimberly; Undiagnosed Diseases Network; Wise, Anastasia L; Shashi, Vandana | BMC health services research. | 2018 Aug 22; | 30134969 | |
| An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. | Haghighi, Alireza; Krier, Joel B; Toth-Petroczy, Agnes; Cassa, Christopher A; Frank, Natasha Y; Carmichael, Nikkola; Fieg, Elizabeth; Bjonnes, Andrew; Mohanty, Anwoy; Briere, Lauren C; Lincoln, Sharyn; Lucia, Stephanie; Gupta, Vandana A; Söylemez, Onuralp; Sutti, Sheila; Kooshesh, Kameron; Qiu, Haiyan; Fay, Christopher J; Perroni, Victoria; Valerius, Jamie; Hanna, Meredith; Frank, Alexander; Ouahed, Jodie; Snapper, Scott B; Pantazi, Angeliki; Chopra, Sameer S; Leshchiner, Ignaty; Stitziel, Nathan O; Feldweg, Anna; Mannstadt, Michael; Loscalzo, Joseph; Sweetser, David A; Liao, Eric; Stoler, Joan M; Nowak, Catherine B; Sanchez-Lara, Pedro A; Klein, Ophir D; Perry, Hazel; Patsopoulos, Nikolaos A; Raychaudhuri, Soumya; Goessling, Wolfram; Green, Robert C; Seidman, Christine E; MacRae, Calum A; Sunyaev, Shamil R; Maas, Richard L; Vuzman, Dana; Undiagnosed Diseases Network, Brigham and Women?s Hospital FaceBase Project, Brigham Genomic Medicine (BGM) | NPJ genomic medicine. | 2018; | 30131872 | |
| Quantitative Cell Biology of Neurodegeneration in Drosophila Through Unbiased Analysis of Fluorescently Tagged Proteins Using ImageJ. | Brazill, Jennifer M; Zhu, Yi; Li, Chong; Zhai, R Grace | Journal of visualized experiments : JoVE. | 2018 08 03; | 30124668 | |
| Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice. | Xiao, Jianfeng; Khan, Mohammad Moshahid; Vemula, Satya; Tian, Jun; LeDoux, Mark S | FEBS letters. | 2018 Sep; | 30098009 | |
| Cardiovascular Precision Medicine in the Genomics Era. | Dainis, Alexandra M; Ashley, Euan A | JACC. Basic to translational science. | 2018 Apr; | 30062216 | |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham Jr, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M | American journal of human genetics. | 2018 Aug 02; | 30057031 | |
| Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. | Salazar, Jose L; Yamamoto, Shinya | Advances in experimental medicine and biology. | 2018; | 30030826 | |
| Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. | Raghavan, Neha S; Brickman, Adam M; Andrews, Howard; Manly, Jennifer J; Schupf, Nicole; Lantigua, Rafael; Wolock, Charles J; Kamalakaran, Sitharthan; Petrovski, Slave; Tosto, Giuseppe; Vardarajan, Badri N; Goldstein, David B; Mayeux, Richard; Alzheimer's Disease Sequencing Project | Annals of clinical and translational neurology. | 2018 Jul; | 30009200 | |
| Network-based approach to prediction and population-based validation of in silico drug repurposing. | Cheng, Feixiong; Desai, Rishi J; Handy, Diane E; Wang, Ruisheng; Schneeweiss, Sebastian; Barabási, Albert-László; Loscalzo, Joseph | Nature communications. | 2018 Jul 12; | 30002366 | |
| De novo missense variants in TRAF7 cause developmental delay, congenital anomalies, and dysmorphic features. | Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. | Am J Hum Genet | 2018 Jul 5 | 29961569 | |
| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. | Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K-G; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C; Goldstein, David B; Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics. | ; | 29907797 | |
| Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F | Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C. | Neurol Genet. | 2018 Jun 8 | 29892709 | |
| Childhood Arthritis and Rheumatology Research Alliance consensus treatment plans for juvenile idiopathic arthritis-associated and idiopathic chronic anterior uveitis. | Angeles-Han, Sheila T; Lo, Mindy S; Henderson, Lauren A; Lerman, Melissa A; Abramson, Leslie; Cooper, Ashley M; Parsa, Miriam F; Zemel, Lawrence S; Ronis, Tova; Beukelman, Timothy; Cox, Erika; Sen, H Nida; Holland, Gary N; Brunner, Hermine I; Lasky, Andrew; Rabinovich, C Egla; Juvenile Idiopathic Arthritis Disease-Specific Uveitis Subcommittee of Childhood Arthritis Rheumatology Research Alliance. | Arthritis care & research. | 2018 May 28; | 29806733 | |
| Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. | Poli, M Cecilia; Ebstein, Frédéric; Nicholas, Sarah K; de Guzman, Marietta M; Forbes, Lisa R; Chinn, Ivan K; Mace, Emily M; Vogel, Tiphanie P; Carisey, Alexandre F; Benavides, Felipe; Coban-Akdemir, Zeynep H; Gibbs, Richard A; Jhangiani, Shalini N; Muzny, Donna M; Carvalho, Claudia M B; Schady, Deborah A; Jain, Mahim; Rosenfeld, Jill A; Emrick, Lisa; Lewis, Richard A; Lee, Brendan; Undiagnosed Diseases Network members; Zieba, Barbara A; Küry, Sébastien; Krüger, Elke; Lupski, James R; Bostwick, Bret L; Orange, Jordan S | American journal of human genetics. | 2018 Jun 07; | 29805043 | |
| Network-Based Disease Module Discovery by a Novel Seed Connector Algorithm with Pathobiological Implications. | Wang, Rui-Sheng; Loscalzo, Joseph | Journal of molecular biology. | 2018 May 20; | 29791871 | |
| Whole-exome sequencing for variant discovery in blepharospasm. | Tian, Jun; Vemula, Satya R; Xiao, Jianfeng; Valente, Enza Maria; Defazio, Giovanni; Petrucci, Simona; Gigante, Angelo Fabio; Rudzi?ska-Bar, Monika; Wszolek, Zbigniew K; Kennelly, Kathleen D; Uitti, Ryan J; van Gerpen, Jay A; Hedera, Peter; Trimble, Elizabeth J; LeDoux, Mark S | Molecular genetics & genomic medicine. | ; | 29770609 | |
| Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. | Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. | BMC Med Genet | 2018 May 16 | 29769041 | |
| MicroRNA Dysregulation in Pulmonary Arteries from Chronic Obstructive Pulmonary Disease. Relationships with Vascular Remodeling. | Musri, Melina M; Coll-Bonfill, Núria; Maron, Bradley A; Peinado, Víctor I; Wang, Rui-Sheng; Altirriba, Jordi; Blanco, Isabel; Oldham, William M; Tura-Ceide, Olga; García-Lucio, Jessica; de la Cruz-Thea, Benjamin; Meister, Gunter; Loscalzo, Joseph; Barberà, Joan A | American journal of respiratory cell and molecular biology. | 2018 Oct; | 29757677 | |
| Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. | Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David; Amaral, Michelle D; Worthey, Elizabeth A; Levy, Shawn; Undiagnosed Diseases Network (UDN); Wangler, Michael F; Bellen, Hugo J; Shashi, Vandana; Yamamoto, Shinya | Human molecular genetics. | 2018 Jul 15; | 29726930 | |
| Emerging Role of Precision Medicine in Cardiovascular Disease. | Leopold, Jane A; Loscalzo, Joseph | Circulation research. | 2018 Apr 27; | 29700074 | |
| Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. | Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. | Human Genet | 2018 Apr | 29691655 | |
| Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. | DeBoever, Christopher; Tanigawa, Yosuke; Lindholm, Malene E; McInnes, Greg; Lavertu, Adam; Ingelsson, Erik; Chang, Chris; Ashley, Euan A; Bustamante, Carlos D; Daly, Mark J; Rivas, Manuel A | Nature communications. | 2018 Apr 24; | 29691392 | |
| Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. | Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge; Baugh, Evan H; Rathakrishnan, Dinesh; Ramalingam, Senthilmurugan; Zagzag, David; Schevon, Catherine A; Dugan, Patricia; Hegde, Manu; Sheth, Sameer A; McKhann, Guy M; Doyle, Werner K; Grant, Gerald A; Porter, Brenda E; Mikati, Mohamad A; Muh, Carrie R; Malone, Colin D; Bergin, Ann Marie R; Peters, Jurriaan M; McBrian, Danielle K; Pack, Alison M; Akman, Cigdem I; LaCoursiere, Christopher M; Keever, Katherine M; Madsen, Joseph R; Yang, Edward; Lidov, Hart G W; Shain, Catherine; Allen, Andrew S; Canoll, Peter D; Crino, Peter B; Poduri, Annapurna H; Heinzen, Erin L | Annals of neurology. | 2018 Jun; | 29679388 | |
| MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. | Rips, Jonathan; Meyer-Schuman, Rebecca; Breuer, Oded; Tsabari, Reuven; Shaag, Avraham; Revel-Vilk, Shoshana; Reif, Shimon; Elpeleg, Orly; Antonellis, Anthony; Harel, Tamar | European journal of medical genetics. | 2018 Apr 12; | 29655802 | |
| Plain-language medical vocabulary for precision diagnosis. | Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA. | Nat Genet | 2018 Apr | 29632381 | |
| Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. | Bastarache, Lisa; Hughey, Jacob J; Hebbring, Scott; Marlo, Joy; Zhao, Wanke; Ho, Wanting T; Van Driest, Sara L; McGregor, Tracy L; Mosley, Jonathan D; Wells, Quinn S; Temple, Michael; Ramirez, Andrea H; Carroll, Robert; Osterman, Travis; Edwards, Todd; Ruderfer, Douglas; Velez Edwards, Digna R; Hamid, Rizwan; Cogan, Joy; Glazer, Andrew; Wei, Wei-Qi; Feng, QiPing; Brilliant, Murray; Zhao, Zhizhuang J; Cox, Nancy J; Roden, Dan M; Denny, Joshua C | Science (New York, N.Y.). | 2018 03 16; | 29590070 | |
| Oculogyric crises in PLA2G6 associated neurodegeneration. | Rohani M, Shahidi G, Vali F, Lang AE, Slow E, Gahl WA, Behnam B. | Parkinsonism Related Disorders | 2018 Jul | 29574084 | |
| Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. | Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. | Mol Genet Metab | 2018 May 16 | 29550355 | |
| Efficient Computational Modeling of Human Ventricular Activation and Its Electrocardiographic Representation: A Sensitivity Study. | Cranford, Jonathan P; O'Hara, Thomas J; Villongco, Christopher T; Hafez, Omar M; Blake, Robert C; Loscalzo, Joseph; Fattebert, Jean-Luc; Richards, David F; Zhang, Xiaohua; Glosli, James N; McCulloch, Andrew D; Krummen, David E; Lightstone, Felice C; Wong, Sergio E | Cardiovascular engineering and technology. | 2018 Sep; | 29549620 | |
| Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M; Kyle, Jennifer E; Grove, Megan E; Fisk, Dianna G; Kohler, Jennefer N; Holmes, Matthew; Dries, Annika M; Huang, Yong; Zhao, Chunli; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M; Kim, Young-Mo; Heyman, Heino M; Stratton, Kelly G; Webb-Robertson, Bobbie-Jo M; Undiagnosed Diseases Network; Snyder, Michael; Merker, Jason D; Montgomery, Stephen B; Fisher, Paul G; Feichtinger, René G; Mayr, Johannes A; Hall, Julie; Barbosa, Ines A; Simpson, Michael A; Deshpande, Charu; Waters, Katrina M; Koeller, David M; Metz, Thomas O; Morris, Andrew A; Schelley, Susan; Cowan, Tina; Friederich, Marisa W; McFarland, Robert; Van Hove, Johan L K; Enns, Gregory M; Yamamoto, Shinya; Ashley, Euan A; Wangler, Michael F; Taylor, Robert W; Bellen, Hugo J; Bernstein, Jonathan A; Wheeler, Matthew T | American journal of human genetics. | 2018 Mar 01; | 29478781 | |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Members of the Undiagnosed Diseases Network; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G | Genetics in medicine : official journal of the American College of Medical Genetics. | 2018 10; | 29469822 | |
| Network Analysis to Risk Stratify Patients With Exercise Intolerance. | Oldham, William M; Oliveira, Rudolf K F; Wang, Rui-Sheng; Opotowsky, Alexander R; Rubins, David M; Hainer, Jon; Wertheim, Bradley M; Alba, George A; Choudhary, Gaurav; Tornyos, Adrienn; MacRae, Calum A; Loscalzo, Joseph; Leopold, Jane A; Waxman, Aaron B; Olschewski, Horst; Kovacs, Gabor; Systrom, David M; Maron, Bradley A | Circulation research. | 2018 Mar 16; | 29437835 | |
| Triplications of human chromosome 21 orthologous regions in mice result in expansion of megakaryocyte-erythroid progenitors and reduction of granulocyte-macrophage progenitors. | Liu, Chunhong; Yu, Tao; Xing, Zhuo; Jiang, Xiaoling; Li, Yichen; Pao, Annie; Mu, Justin; Wallace, Paul K; Stoica, George; Bakin, Andrei V; Yu, Y Eugene | Oncotarget. | 2018 Jan 12; | 29435140 | |
| Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. | Pomerantz, Daniel J; Ferdinandusse, Sacha; Cogan, Joy; Cooper, David N; Reimschisel, Tyler; Robertson, Amy; Bican, Anna; McGregor, Tracy; Gauthier, Jackie; Millington, David S; Andrae, Jaime L W; Tschannen, Michael R; Helbling, Daniel C; Demos, Wendy M; Denis, Simone; Wanders, Ronald J A; Newman, John N; Hamid, Rizwan; Phillips 3rd, John A; Collaborators of UDN | American journal of medical genetics. Part A. | 2018 Mar; | 29388319 | |
| Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. | Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A; Cogan, Joy; Blackwell, Timothy S; Phillips, John A; Bush, William S; Meiler, Jens; Capra, John A | BMC bioinformatics. | 2018 Jan 23; | 29361909 | |
| Phenotypic heterogeneity of ZMPSTE24 deficiency. | Cassini, Thomas A; Robertson, Amy K; Bican, Anna G; Cogan, Joy D; Hannig, Vickie L; Newman, John H; Hamid, Rizwan; Phillips 3rd, John A; Undiagnosed Diseases Network | American journal of medical genetics. Part A. | 2018 Jan 17; | 29341437 | |
| A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. | Reuter, Chloe M; Brimble, Elise; DeFilippo, Colette; Dries, Annika M; Undiagnosed Diseases Network; Enns, Gregory M; Ashley, Euan A; Bernstein, Jonathan A; Fisher, Paul Graham; Wheeler, Matthew T | The Journal of pediatrics. | 2018 Jan 11; | 29331327 | |
| Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Jordan, Valerie K; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J; Balci, Tugce B; Carter, Melissa T; Bernat, John A; Moccia, Amanda N; Srivastava, Anshika; Martin, Donna M; Bielas, Stephanie L; Pappas, John; Svoboda, Melissa D; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M; Scaglia, Fernando; Undiagnosed Diseases Network; Kohler, Jennefer N; Bernstein, Jonathan A; Dries, Annika M; Rosenfeld, Jill A; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H; Bi, Weimin; Scott, Daryl A | Human mutation. | 2018 05; | 29330883 | |
| A recurrent de novo missense mutation in UBTF causes developmental neuroregression. | Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chris; C4RCD Research Group; LeDoux, Mark S | Human molecular genetics. | 2018 Feb 15; | 29300972 | |
| Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? | McConkie-Rosell, Allyn; Hooper, Stephen R; Pena, Loren D M; Schoch, Kelly; Spillmann, Rebecca C; Jiang, Yong-Hui; Cope, Heidi; Undiagnosed Diseases Network; Palmer, Christina; Shashi, Vandana | Journal of genetic counseling. | 2018 Jan 02; | 29297108 | |
| FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. | Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzonca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosinska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax A; Schwartz, Charles E; Van Maldergem, Lionel; Wang, Tao; Worley, Paul F | Human molecular genetics. | 2018 Feb 15; | 29267967 | |
| Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis. | Taruscio D, Floridia G, Salvatore M, Groft S, Gahl WA | Adv Exp Med Biol | 29214564 | ||
| Patients with rare diseases: From therapeutic orphans to pioneers of personalized treatments. | Klein C, Gahl WA. | EMBO J | 2018 Jan | 29180354 | |
| DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. | Khan, Mohammad Moshahid; Xiao, Jianfeng; Patel, Damini; LeDoux, Mark S | Neurobiology of aging. | 2018 Feb; | 29154038 | |
| Genetic strategies to tackle neurological diseases in fruit flies. | ?entürk, Mümine; Bellen, Hugo J | Current opinion in neurobiology. | 2017 Nov 08; | 29128849 | |
| Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. | Mori, Mari; Haskell, Gloria; Kazi, Zoheb; Zhu, Xiaolin; DeArmey, Stephanie M; Goldstein, Jennifer L; Bali, Deeksha; Rehder, Catherine; Cirulli, Elizabeth T; Kishnani, Priya S | Molecular genetics and metabolism. | 2017 Dec; | 29122469 | |
| Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause levodopa-responsive infantile-onset parkinsonism. | Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV. | Clin Genet | 2018 Mar | 29120065 | |
| Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. | Li, Chong; Brazill, Jennifer M; Liu, Sha; Bello, Christofer; Zhu, Yi; Morimoto, Marie; Cascio, Lauren; Pauly, Rini; Diaz-Perez, Zoraida; Malicdan, May Christine V; Wang, Hongbo; Boccuto, Luigi; Schwartz, Charles E; Gahl, William A; Boerkoel, Cornelius F; Zhai, R Grace | Nature communications. | 2017 Nov 02; | 29097652 | |
| Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. | Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. | Brain. | 2017 Nov 1 | 29053833 | |
| Defective ciliogenesis in INPP5E-related Joubert syndrome. | Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira C, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara E, Gunay-Aygun M, Zein WM, Gahl W, Malicdan MCV. | Am J Med Genet A | 10/20/2017 | 29052317 | |
| A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency. | Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira C, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. | Hum. Mutat. | 10/16/2017 | 29044765 | |
| Closing the Genotype-Phenotype Loop for Precision Medicine. | MacRae, Calum A; Seidman, Christine E | Circulation. | 2017 Oct 17; | 29038206 | |
| Rodent models in Down syndrome research: impact and future opportunities. | Herault, Yann; Delabar, Jean M; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Yu, Eugene; Brault, Veronique | Disease models & mechanisms. | 2017 Oct 01; | 28993310 | |
| Y Not? Sex Chromosomes May Modify Sexual Dimorphism in Pulmonary Hypertension. | Austin, Eric D; Hamid, Rizwan | American journal of respiratory and critical care medicine. | 2018 Apr 01; | 28968140 | |
| Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. | Splinter, Kimberly; Hull, Sara Chandros; Holm, Ingrid A; McDonough, Tara L; Wise, Anastasia L; Ramoni, Rachel B; Members of the Undiagnosed Diseases Network | Clinical and translational science. | 2018 Jan; | 28945957 | |
| Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. | Pena, Loren D M; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel S G; Del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Undiagnosed Diseases Network Members; Goldstein, David B; Shashi, Vandana | Genetics in medicine : official journal of the American College of Medical Genetics. | 2017 Sep 14; | 28914269 | |
| A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. | Purcell, Ryan H;Toro, Camilo;Gahl, William A;Hall, Randy A | Hum. Mutat. | 2017-09-10 | 28891236 | |
| Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na(+)/K(+) pump ATP?. | Hope, Kevin A; LeDoux, Mark S; Reiter, Lawrence T | Neurobiology of disease. | 2017 Dec; | 28888970 | |
| Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. | Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan; Posey, Jennifer E; Westerfield, Monte; Postlethwait, John; Members of the Undiagnosed Diseases Network (UDN); Hieter, Philip; Boycott, Kym M; Campeau, Philippe M; Bellen, Hugo J | Genetics. | 2017 Sep; | 28874452 | |
| Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders. | Feiglin, Ariel; Allen, Bryce K; Kohane, Isaac S; Kong, Sek Won | Cell systems. | 2017 Aug 23; | 28822752 | |
| Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | Bostwick, Bret L; McLean, Scott; Posey, Jennifer E; Streff, Haley E; Gripp, Karen W; Blesson, Alyssa; Powell-Hamilton, Nina; Tusi, Jessica; Stevenson, David A; Farrelly, Ellyn; Hudgins, Louanne; Yang, Yaping; Xia, Fan; Wang, Xia; Liu, Pengfei; Walkiewicz, Magdalena; McGuire, Marianne; Grange, Dorothy K; Andrews, Marisa V; Hummel, Marybeth; Madan-Khetarpal, Suneeta; Infante, Elena; Coban-Akdemir, Zeynep; Miszalski-Jamka, Karol; Jefferies, John L; Members of the Undiagnosed Diseases Network; Rosenfeld, Jill A; Emrick, Lisa; Nugent, Kimberly M; Lupski, James R; Belmont, John W; Lee, Brendan; Lalani, Seema R | Genome medicine. | 2017 Aug 14; | 28807008 | |
| Annotating pathogenic non-coding variants in genic regions. | Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B | Nature communications. | 2017 Aug 09; | 28794409 | |
| Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? | Svingen, Leah;Goheen, Mitchell;Godfrey, Rena;Wahl, Colleen;Baker, Eva H;Gahl, William A;Malicdan, May Christine V;Toro, Camilo | Dev Med Child Neurol | 2017-08-01 | 28762473 | |
| Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | Luo, Xi; Rosenfeld, Jill A; Yamamoto, Shinya; Harel, Tamar; Zuo, Zhongyuan; Hall, Melissa; Wierenga, Klaas J; Pastore, Matthew T; Bartholomew, Dennis; Delgado, Mauricio R; Rotenberg, Joshua; Lewis, Richard Alan; Emrick, Lisa; Bacino, Carlos A; Eldomery, Mohammad K; Coban Akdemir, Zeynep; Xia, Fan; Yang, Yaping; Lalani, Seema R; Lotze, Timothy; Lupski, James R; Lee, Brendan; Bellen, Hugo J; Wangler, Michael F; Members of the UDN | PLoS genetics. | 2017 Jul; | 28742085 | |
| Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. | Zhang, Yihan; Qin, Wei; Lu, Xiaochan; Xu, Jason; Huang, Haigen; Bai, Haipeng; Li, Song; Lin, Shuo | Nature communications. | 2017 07 25; | 28740134 | |
| Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. | Armangue, Thais;Orsini, Joseph J;Takanohashi, Asako;Gavazzi, Francesco;Conant, Alex;Ulrick, Nicole;Morrissey, Mark A;Nahhas, Norah;Helman, Guy;Gordish-Dressman, Heather;Orcesi, Simona;Tonduti, Davide;Stutterd, Chloe;van Haren, Keith;Toro, Camilo;Iglesias, Alejandro D;van der Knaap, Marjo S;Goldbach Mansky, Raphaela;Moser, Anne B;Jones, Richard O;Vanderver, Adeline | Mol. Genet. Metab. | 2017-07-20 | 28739201 | |
| Serotonergic Modulation Enables Pathway-Specific Plasticity in a Developing Sensory Circuit in Drosophila. | Kaneko, Takuya; Macara, Ann Marie; Li, Ruonan; Hu, Yujia; Iwasaki, Kenichi; Dunnings, Zane; Firestone, Ethan; Horvatic, Shawn; Guntur, Ananya; Shafer, Orie T; Yang, Chung-Hui; Zhou, Jie; Ye, Bing | Neuron. | 2017 Aug 02; | 28712652 | |
| Pharmacological targeting of SPAK kinase in disorders of impaired epithelial transport. | Zhang, Jinwei; Karimy, Jason K; Delpire, Eric; Kahle, Kristopher T | Expert opinion on therapeutic targets. | 2017 Aug; | 28679296 | |
| Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. | Oprescu, Stephanie N; Chepa-Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C; Adams, David R; Toro, Camilo; Gropman, Andrea L; Hou, Ya-Ming; Malicdan, May Christine V; Gahl, William A; Tifft, Cynthia J; Antonellis, Anthony | Human mutation. | 2017 Jul 04; | 28675565 | |
| Systematic bacterialization of yeast genes identifies a near-universally swappable pathway. | Kachroo, Aashiq H; Laurent, Jon M; Akhmetov, Azat; Szilagyi-Jones, Madelyn; McWhite, Claire D; Zhao, Alice; Marcotte, Edward M | eLife. | 2017 Jun 29; | 28661399 | |
| The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. | Vassy, Jason L; Christensen, Kurt D; Schonman, Erica F; Blout, Carrie L; Robinson, Jill O; Krier, Joel B; Diamond, Pamela M; Lebo, Matthew; Machini, Kalotina; Azzariti, Danielle R; Dukhovny, Dmitry; Bates, David W; MacRae, Calum A; Murray, Michael F; Rehm, Heidi L; McGuire, Amy L; Green, Robert C; MedSeq Project | Annals of internal medicine. | 2017 Jun 27; | 28654958 | |
| Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. | Xu X, Wang A, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S. McKew JC, Gahl WA, Huizing M, Carrillo N. | Mol Genet Metab | 2017 Sep | 28641925 | |
| Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Gall, Timothy;Valkanas, Elise;Bello, Christofer;Markello, Thomas;Adams, Christopher;Bone, William P;Brandt, Alexander J;Brazill, Jennifer M;Carmichael, Lynn;Davids, Mariska;Davis, Joie;Diaz-Perez, Zoraida;Draper, David;Elson, Jeremy;Flynn, Elise D;Godfrey, Rena;Groden, Catherine;Hsieh, Cheng-Kang;Fischer, Roxanne;Golas, Gretchen A;Guzman, Jessica;Huang, Yan;Kane, Megan S;Lee, Elizabeth;Li, Chong;Links, Amanda E;Maduro, Valerie;Malicdan, May Christine V;Malik, Fayeza S;Nehrebecky, Michele;Park, Joun;Pemberton, Paul;Schaffer, Katherine;Simeonov, Dimitre;Sincan, Murat;Smedley, Damian;Valivullah, Zaheer;Wahl, Colleen;Washington, Nicole;Wolfe, Lynne A;Xu, Karen;Zhu, Yi;Gahl, William A;Tifft, Cynthia J;Toro, Camillo;Adams, David R;He, Miao;Robinson, Peter N;Haendel, Melissa A;Zhai, R Grace;Boerkoel, Cornelius F | Front Med (Lausanne) | 2017-01-01 | 28603714 | |
| Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. | Drew, Kevin; Lee, Chanjae; Huizar, Ryan L; Tu, Fan; Borgeson, Blake; McWhite, Claire D; Ma, Yun; Wallingford, John B; Marcotte, Edward M | Molecular systems biology. | 2017 Jun 08; | 28596423 | |
| Genetically encoded fluorescent sensors reveal dynamic regulation of NADPH metabolism. | Tao, Rongkun; Zhao, Yuzheng; Chu, Huanyu; Wang, Aoxue; Zhu, Jiahuan; Chen, Xianjun; Zou, Yejun; Shi, Mei; Liu, Renmei; Su, Ni; Du, Jiulin; Zhou, Hai-Meng; Zhu, Linyong; Qian, Xuhong; Liu, Haiyan; Loscalzo, Joseph; Yang, Yi | Nature methods. | 2017 Jul; | 28581494 | |
| Building dialogues between clinical and biomedical research through cross-species collaborations. | Chao, Hsiao-Tuan; Liu, Lucy; Bellen, Hugo J | Seminars in cell & developmental biology. | 2017 Jun 01; | 28579453 | |
| A cell cycle-independent, conditional gene inactivation strategy for differentially tagging wild-type and mutant cells. | Nagarkar-Jaiswal, Sonal; Manivannan, Sathiya N; Zuo, Zhongyuan; Bellen, Hugo J | eLife. | 2017 May 31; | 28561736 | |
| Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. | Cook, Matthew S; Cazin, Coralie; Amoyel, Marc; Yamamoto, Shinya; Bach, Erika; Nystul, Todd | Genetics. | 2017 Jul; | 28512187 | |
| Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. | Cho, Anna;Christine, May;Malicdan, V;Miyakawa, Miho;Nonaka, Ikuya;Nishino, Ichizo;Noguchi, Satoru | Hum. Mol. Genet. | 2017-08-15 | 28505249 | |
| MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. | Wang, Julia; Al-Ouran, Rami; Hu, Yanhui; Kim, Seon-Young; Wan, Ying-Wooi; Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan; Comjean, Aram; Mohr, Stephanie E; UDN; Perrimon, Norbert; Liu, Zhandong; Bellen, Hugo J | American journal of human genetics. | 2017 Jun 01; | 28502612 | |
| Initiating an undiagnosed diseases program in the Western Australian public health system. | Baynam, Gareth;Broley, Stephanie;Bauskis, Alicia;Pachter, Nicholas;McKenzie, Fiona;Townshend, Sharron;Slee, Jennie;Kiraly-Borri, Cathy;Vasudevan, Anand;Hawkins, Anne;Schofield, Lyn;Helmholz, Petra;Palmer, Richard;Kung, Stefanie;Walker, Caroline E;Molster, Caron;Lewis, Barry;Mina, Kym;Beilby, John;Pathak, Gargi;Poulton, Cathryn;Groza, Tudor;Zankl, Andreas;Roscioli, Tony;Dinger, Marcel E;Mattick, John S;Gahl, William;Groft, Stephen;Tifft, Cynthia;Taruscio, Domenica;Lasko, Paul;Kosaki, Kenjiro;Wilhelm, Helene;Melegh, Bela;Carapetis, Jonathan;Jana, Sayanta;Chaney, Gervase;Johns, Allison;Owen, Peter Wynn;Daly, Frank;Weeramanthri, Tarun;Dawkins, Hugh;Goldblatt, Jack | Orphanet J Rare Dis | 2017-05-03 | 28468665 | |
| Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. | Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D; Lincoln, Sharyn; Sweetser, David A; Briere, Lauren C; Harini, Chellamani; Members of the Undiagnosed Diseases Network; Marsh, Eric; Medne, Livija; Wang, Raymond Y; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L; van der Smagt, Jasper; Yousaf, Adeel; Tennison, Michael; Shanmugham, Anita; Butler, Elizabeth; Richard, Gabriele; McKnight, Dianalee | Journal of neurogenetics. | 2017 Mar - Jun; | 28460589 | |
| Chloride Dysregulation, Seizures, and Cerebral Edema: A Relationship with Therapeutic Potential. | Glykys, Joseph; Dzhala, Volodymyr; Egawa, Kiyoshi; Kahle, Kristopher T; Delpire, Eric; Staley, Kevin | Trends in neurosciences. | 2017 May; | 28431741 | |
| A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. | Spillmann, Rebecca C; McConkie-Rosell, Allyn; Pena, Loren; Jiang, Yong-Hui; Undiagnosed Diseases Network; Schoch, Kelly; Walley, Nicole; Sanders, Camilla; Sullivan, Jennifer; Hooper, Stephen R; Shashi, Vandana | Orphanet journal of rare diseases. | 2017 Apr 17; | 28416019 | |
| Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. | Barel, Ortal;Christine V Malicdan, May;Ben-Zeev, Bruria;Kandel, Judith;Pri-Chen, Hadass;Stephen, Joshi;Castro, Inês G;Metz, Jeremy;Atawa, Osama;Moshkovitz, Sharon;Ganelin, Eti;Barshack, Iris;Polak-Charcon, Sylvie;Nass, Dvora;Marek-Yagel, Dina;Amariglio, Ninette;Shalva, Nechama;Vilboux, Thierry;Ferreira, Carlos;Pode-Shakked, Ben;Heimer, Gali;Hoffmann, Chen;Yardeni, Tal;Nissenkorn, Andreea;Avivi, Camila;Eyal, Eran;Kol, Nitzan;Glick Saar, Efrat;Wallace, Douglas C;Gahl, William A;Rechavi, Gideon;Schrader, Michael;Eckmann, David M;Anikster, Yair | Brain | 2017-03-01 | 28364549 | |
| Induced Pluripotent Stem Cells in Pulmonary Arterial Hypertension. | Hamid, Rizwan; Yan, Ling | American journal of respiratory and critical care medicine. | 2017 04 01; | 28362194 | |
| Abnormal glycosylation in Joubert syndrome type 10. | Kane, Megan S;Davids, Mariska;Bond, Michelle R;Adams, Christopher J;Grout, Megan E;Phelps, Ian G;O'Day, Diana R;Dempsey, Jennifer C;Li, Xeuli;Golas, Gretchen;Vezina, Gilbert;Gunay-Aygun, Meral;Hanover, John A;Doherty, Dan;He, Miao;Malicdan, May Christine V;Gahl, William A;Boerkoel, Cornelius F | Cilia | 2017-01-01 | 28344780 | |
| Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. | Manolio, Teri A; Fowler, Douglas M; Starita, Lea M; Haendel, Melissa A; MacArthur, Daniel G; Biesecker, Leslie G; Worthey, Elizabeth; Chisholm, Rex L; Green, Eric D; Jacob, Howard J; McLeod, Howard L; Roden, Dan; Rodriguez, Laura Lyman; Williams, Marc S; Cooper, Gregory M; Cox, Nancy J; Herman, Gail E; Kingsmore, Stephen; Lo, Cecilia; Lutz, Cathleen; MacRae, Calum A; Nussbaum, Robert L; Ordovas, Jose M; Ramos, Erin M; Robinson, Peter N; Rubinstein, Wendy S; Seidman, Christine; Stranger, Barbara E; Wang, Haoyi; Westerfield, Monte; Bult, Carol | Cell. | 2017 Mar 23; | 28340351 | |
| Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A; Al Shamsi, Aisha; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L; Qu, Chunjing; Ding, Yan; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E; Lupski, James R; Schaaf, Christian P; Yang, Yaping | Nature genetics. | 2017 Apr; | 28288113 | |
| Current Genetic Testing Tools in Neonatal Medicine. | Lalani, Seema R | Pediatrics and neonatology. | ; | 28277305 | |
| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A; Balwi, Mohammed Al; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Shamsi, Aisha M Al; Komara, Makanko; Ali, Bassam R; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S; Manchester, David K; Magoulas, Pilar; King, Lauren E; Hannig, Vickie; Bonneau, Dominique; Denommé-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bézieau, Stéphane; Cogné, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M; Lupski, James R; Yang, Yaping; Patel, Ankita; Lalani, Seema R; Xia, Fan; Stankiewicz, Pawe? | Human genetics. | 2017 Apr; | 28251352 | |
| Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. | Stephen, Joshi;Vilboux, Thierry;Mian, Luhe;Kuptanon, Chulaluck;Sinclair, Courtney M;Yildirimli, Deniz;Maynard, Dawn M;Bryant, Joy;Fischer, Roxanne;Vemulapalli, Meghana;Mullikin, James C;;Huizing, Marjan;Gahl, William A;Malicdan, May Christine V;Gunay-Aygun, Meral | Hum. Genet. | 2017-02-20 | 28220259 | |
| Exome analysis of Smith-Magenis-like Syndrome cohort identifies de novo likely pathogenic variants. | Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM. | Human Genet | 2017 Apr | 28213671 | |
| Molecular modeling in the age of clinical genomics, the enterprise of the next generation. | Prokop, Jeremy W; Lazar, Jozef; Crapitto, Gabrielle; Smith, D Casey; Worthey, Elizabeth A; Jacob, Howard J | Journal of molecular modeling. | 2017 Mar; | 28204942 | |
| ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. | Zhang, Yihan;Huang, Haigen;Zhao, Gexin;Yokoyama, Tadafumi;Vega, Hugo;Huang, Yan;Sood, Raman;Bishop, Kevin;Maduro, Valerie;Accardi, John;Toro, Camilo;Boerkoel, Cornelius F;Lyons, Karen;Gahl, William A;Duan, Xiaohong;Malicdan, May Christine V;Lin, Shuo | PLoS Genet. | 2017-02-01 | 28158191 | |
| The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. | Ramoni, Rachel B; Mulvihill, John J; Adams, David R; Allard, Patrick; Ashley, Euan A; Bernstein, Jonathan A; Gahl, William A; Hamid, Rizwan; Loscalzo, Joseph; McCray, Alexa T; Shashi, Vandana; Tifft, Cynthia J; Undiagnosed Diseases Network; Wise, Anastasia L | American journal of human genetics. | 2017 Feb 02; | 28157539 | |
| A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. | Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana | American journal of human genetics. | 2017 Feb 02; | 28132692 | |
| Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. | Anikster, Yair;Haack, Tobias B;Vilboux, Thierry;Pode-Shakked, Ben;Thöny, Beat;Shen, Nan;Guarani, Virginia;Meissner, Thomas;Mayatepek, Ertan;Trefz, Friedrich K;Marek-Yagel, Dina;Martinez, Aurora;Huttlin, Edward L;Paulo, Joao A;Berutti, Riccardo;Benoist, Jean-François;Imbard, Apolline;Dorboz, Imen;Heimer, Gali;Landau, Yuval;Ziv-Strasser, Limor;Malicdan, May Christine V;Gemperle-Britschgi, Corinne;Cremer, Kirsten;Engels, Hartmut;Meili, David;Keller, Irene;Bruggmann, Rémy;Strom, Tim M;Meitinger, Thomas;Mullikin, James C;Schwartz, Gerard;Ben-Zeev, Bruria;Gahl, William A;Harper, J Wade;Blau, Nenad;Hoffmann, Georg F;Prokisch, Holger;Opladen, Thomas;Schiff, Manuel | Am. J. Hum. Genet. | 2017-01-26 | 28132689 | |
| Molecular genetic findings and clinical correlations in 100 patients with Joubert Syndrome and related disorders prospectively evaluated at a single center | Vilboux T, Doherty D, Glass IA, Parisi MA, Malicdan MC, Phelps IG, Cullinane AR, Zein W, Heller T, Soldatos A, Brooks BP, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, NIH Intramural Sequencing Center (NISC), Gahl WA, Gunay-Aygun M. | Genet Med | 2017 Aug | 28125082 | |
| New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. | Roohi, Jasmin; Crowe, Jennifer; Loredan, Denis; Anyane-Yeboa, Kwame; Mansukhani, Mahesh M; Omesi, Lenore; Levine, Jennifer; Revah Politi, Anya; Zha, Shan | Journal of human genetics. | 2017 Jan 26; | 28123174 | |
| Joubert syndrome: Neuroimaging findings in 110 patients with cognitive function and genetic cause. | Poretti A, Snow J, Summers A, Tekes A, Huisman T, Aygun N, Carson KA, Doherty, Parisi MA, Toro C, Yildrimili D, Vemalapalli M, Mullikin JC, NISC Comparative Sequencing Program, Cullinane A, Vilboux T, Gahl WA, Gunay-Aygun M. | J Med Genet | 2017 Aug | 28087721 | |
| Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. | Kambouris, Marios;Thevenon, Julien;Soldatos, Ariane;Cox, Allison;Stephen, Joshi;Ben-Omran, Tawfeg;Al-Sarraj, Yasser;Boulos, Hala;Bone, William;Mullikin, James C;;Masurel-Paulet, Alice;St-Onge, Judith;Dufford, Yannis;Chantegret, Corrine;Thauvin-Robinet, Christel;Al-Alami, Jamil;Faivre, Laurence;Riviere, Jean Baptiste;Gahl, William A;Bassuk, Alexander G;Malicdan, May Christine V;El-Shanti, Hatem | Ann Clin Transl Neurol | 2017-01-01 | 28078312 | |
| De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Undiagnosed Diseases Network; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny | American journal of human genetics. | 2017 Jan 05; | 28061364 | |
| CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. | Vilboux T, Malicdan MC, Roney J, Cullinane A, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin J, Comparative Seqeuncing Program, NISC, Steinbach P, Gahl W, Gunay-Aygun M. | Am J Med Genet A | 2017 Mar | 28052552 | |
| Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. | Zastrow, Diane B; Zornio, Patricia A; Dries, Annika; Kohler, Jennefer; Fernandez, Liliana; Waggott, Daryl; Walkiewicz, Magdalena; Eng, Christine M; Manning, Melanie A; Farrelly, Ellyn; Undiagnosed Diseases Network; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T | Cold Spring Harbor molecular case studies. | 2017 Jan; | 28050602 | |
| Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. | Noguchi, Satoru;Ogawa, Megumu;Malicdan, May Christine;Nonaka, Ikuya;Nishino, Ichizo | EBioMedicine | 2017-02-01 | 28043812 | |
| Combined alpha-delta platelet storge pool deficiency is associated with mutations in GFI1B. | Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. | Mol Genet Metab | 2017 Mar | 28041820 | |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Bashamboo, Anu; Donohoue, Patricia A; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Members of UDN; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P; de Silva, Ksh; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F; McElreavey, Ken; Achermann, John C | Human molecular genetics. | 2016 Dec 27; | 28031288 | |
| The KCC3 cotransporter as a therapeutic target for peripheral neuropathy. | Delpire, Eric; Kahle, Kristopher T | Expert opinion on therapeutic targets. | 2017 Feb; | 28019725 | |
| Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers. | Gu, Mingxia; Shao, Ning-Yi; Sa, Silin; Li, Dan; Termglinchan, Vittavat; Ameen, Mohamed; Karakikes, Ioannis; Sosa, Gustavo; Grubert, Fabian; Lee, Jaecheol; Cao, Aiqin; Taylor, Shalina; Ma, Yu; Zhao, Zhixin; Chappell, James; Hamid, Rizwan; Austin, Eric D; Gold, Joseph D; Wu, Joseph C; Snyder, Michael P; Rabinovitch, Marlene | Cell stem cell. | 2017 04 06; | 28017794 | |
| A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G; Rosenfeld, Jill A; McCarty, Alexandra J; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K; Warr, Coral G; Undiagnosed Diseases Network; Yamamoto, Shinya; Adams, David R; Markello, Thomas C; Gahl, William A; Bellen, Hugo J; Wangler, Michael F; Malicdan, May Christine V | American journal of human genetics. | 2017 Jan 05; | 28017372 | |
| Challenges of Finding Novel Drugs Targeting the K-Cl Cotransporter. | Delpire, Eric; Weaver, C David | ACS chemical neuroscience. | 2016 Dec 21; | 27998063 | |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. | Meyer, Esther;Carss, Keren J;Rankin, Julia;Nichols, John M E;Grozeva, Detelina;Joseph, Agnel P;Mencacci, Niccolo E;Papandreou, Apostolos;Ng, Joanne;Barral, Serena;Ngoh, Adeline;Ben-Pazi, Hilla;Willemsen, Michel A;Arkadir, David;Barnicoat, Angela;Bergman, Hagai;Bhate, Sanjay;Boys, Amber;Darin, Niklas;Foulds, Nicola;Gutowski, Nicholas;Hills, Alison;Houlden, Henry;Hurst, Jane A;Israel, Zvi;Kaminska, Margaret;Limousin, Patricia;Lumsden, Daniel;McKee, Shane;Misra, Shibalik;Mohammed, Shekeeb S;Nakou, Vasiliki;Nicolai, Joost;Nilsson, Magnus;Pall, Hardev;Peall, Kathryn J;Peters, Gregory B;Prabhakar, Prab;Reuter, Miriam S;Rump, Patrick;Segel, Reeval;Sinnema, Margje;Smith, Martin;Turnpenny, Peter;White, Susan M;Wieczorek, Dagmar;Wiethoff, Sarah;Wilson, Brian T;Winter, Gidon;Wragg, Christopher;Pope, Simon;Heales, Simon J H;Morrogh, Deborah;;;;Pittman, Alan;Carr, Lucinda J;Perez-Dueñas, Belen;Lin, Jean-Pierre;Reis, Andre;Gahl, William A;Toro, Camilo;Bhatia, Kailash P;Wood, Nicholas W;Kamsteeg, Erik-Jan;Chong, Wui K;Gissen, Paul;Topf, Maya;Dale, Russell C;Chubb, Jonathan R;Raymond, F Lucy;Kurian, Manju A | Nat. Genet. | 2017-02-01 | 27992417 | |
| Genetic screening in Iranian patients with retinoblastoma. | Shahraki, K;Ahani, A;Sharma, P;Faranoush, M;Bahoush, G;Torktaz, I;Gahl, W A;Naseripour, M;Behnam, B | Eye (Lond) | 2016-12-16 | 27983729 | |
| Responses to reductive stress in the cardiovascular system. | Handy, Diane E; Loscalzo, Joseph | Free radical biology & medicine. | 2016 Dec 08; | 27940350 | |
| A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1. | Delpire, Eric; Wolfe, Lynne; Flores, Bianca; Koumangoye, Rainelli; Schornak, Cara C; Omer, Salma; Pusey, Barbara; Lau, Christopher; Markello, Thomas; Adams, David R | Cold Spring Harbor molecular case studies. | 2016 Nov; | 27900370 | |
| Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay. | Orenstein, Naama; Weiss, Karin; Oprescu, Stephanie N; Shapira, Rivka; Kidron, Dvora; Vanagaite-Basel, Lina; Antonellis, Anthony; Muenke, Maximilian | Clinical genetics. | ; | 27891590 | |
| Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. | Xiao, Jianfeng; Vemula, Satya R; Xue, Yi; Khan, Mohammad M; Carlisle, Francesca A; Waite, Adrian J; Blake, Derek J; Dragatsis, Ioannis; Zhao, Yu; LeDoux, Mark S | Neurobiology of disease. | 2017 Feb; | 27890709 | |
| Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. | Oprescu, Stephanie N; Griffin, Laurie B; Beg, Asim A; Antonellis, Anthony | Methods (San Diego, Calif.). | ; | 27876679 | |
| Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. | Swanger, Sharon A;Chen, Wenjuan;Wells, Gordon;Burger, Pieter B;Tankovic, Anel;Bhattacharya, Subhrajit;Strong, Katie L;Hu, Chun;Kusumoto, Hirofumi;Zhang, Jing;Adams, David R;Millichap, John J;Petrovski, Slavé;Traynelis, Stephen F;Yuan, Hongjie | Am. J. Hum. Genet. | 2016-12-01 | 27839871 | |
| Zebrafish Genome Engineering Using the CRISPR-Cas9 System. | Li, Mingyu; Zhao, Liyuan; Page-McCaw, Patrick S; Chen, Wenbiao | Trends in genetics : TIG. | 2016 Dec; | 27836208 | |
| Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis. | Christensen ED, Berger J, Alashari MM, Coon H, Robison C, Ho HT, Adams DR, Gahl WA, Smith KR, Opitz JM, Johnson DR. | Am J Med Genet A | 2016 Oct | 27792857 | |
| Mouse-based genetic modeling and analysis of Down syndrome. | Xing, Zhuo; Li, Yichen; Pao, Annie; Bennett, Abigail S; Tycko, Benjamin; Mobley, William C; Yu, Y Eugene | British medical bulletin. | 2016 12; | 27789459 | |
| Genome-wide significance testing of variation from single case exomes. | Wilfert AB, Chao KR, Kaushal M, Jain S, Zollner S, Adams DR, Conrad DF. | Nat Genet | 2016 Oct | 27776118 | |
| Genome evolution in the allotetraploid frog Xenopus laevis. | Session, Adam M; Uno, Yoshinobu; Kwon, Taejoon; Chapman, Jarrod A; Toyoda, Atsushi; Takahashi, Shuji; Fukui, Akimasa; Hikosaka, Akira; Suzuki, Atsushi; Kondo, Mariko; van Heeringen, Simon J; Quigley, Ian; Heinz, Sven; Ogino, Hajime; Ochi, Haruki; Hellsten, Uffe; Lyons, Jessica B; Simakov, Oleg; Putnam, Nicholas; Stites, Jonathan; Kuroki, Yoko; Tanaka, Toshiaki; Michiue, Tatsuo; Watanabe, Minoru; Bogdanovic, Ozren; Lister, Ryan; Georgiou, Georgios; Paranjpe, Sarita S; van Kruijsbergen, Ila; Shu, Shengquiang; Carlson, Joseph; Kinoshita, Tsutomu; Ohta, Yuko; Mawaribuchi, Shuuji; Jenkins, Jerry; Grimwood, Jane; Schmutz, Jeremy; Mitros, Therese; Mozaffari, Sahar V; Suzuki, Yutaka; Haramoto, Yoshikazu; Yamamoto, Takamasa S; Takagi, Chiyo; Heald, Rebecca; Miller, Kelly; Haudenschild, Christian; Kitzman, Jacob; Nakayama, Takuya; Izutsu, Yumi; Robert, Jacques; Fortriede, Joshua; Burns, Kevin; Lotay, Vaneet; Karimi, Kamran; Yasuoka, Yuuri; Dichmann, Darwin S; Flajnik, Martin F; Houston, Douglas W; Shendure, Jay; DuPasquier, Louis; Vize, Peter D; Zorn, Aaron M; Ito, Michihiko; Marcotte, Edward M; Wallingford, John B; Ito, Yuzuru; Asashima, Makoto; Ueno, Naoto; Matsuda, Yoichi; Veenstra, Gert Jan C; Fujiyama, Asao; Harland, Richard M; Taira, Masanori; Rokhsar, Daniel S | Nature. | 2016 10 20; | 27762356 | |
| Genomic sequencing in clinical practice: applications, challenges, and opportunities. | Krier, Joel B; Kalia, Sarah S; Green, Robert C | Dialogues in clinical neuroscience. | 2016 Sep; | 27757064 | |
| Tissue Specificity of Human Disease Module. | Kitsak, Maksim; Sharma, Amitabh; Menche, Jörg; Guney, Emre; Ghiassian, Susan Dina; Loscalzo, Joseph; Barabási, Albert-László | Scientific reports. | 2016 Oct 17; | 27748412 | |
| De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Undiagnosed Diseases Network; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny | American journal of human genetics. | 2016 Oct 06; | 27693232 | |
| Early somatic mosaicism is a rare cause of long-QT syndrome. | Priest, James Rush; Gawad, Charles; Kahlig, Kristopher M; Yu, Joseph K; O'Hara, Thomas; Boyle, Patrick M; Rajamani, Sridharan; Clark, Michael J; Garcia, Sarah T K; Ceresnak, Scott; Harris, Jason; Boyle, Sean; Dewey, Frederick E; Malloy-Walton, Lindsey; Dunn, Kyla; Grove, Megan; Perez, Marco V; Neff, Norma F; Chen, Richard; Maeda, Katsuhide; Dubin, Anne; Belardinelli, Luiz; West, John; Antolik, Christian; Macaya, Daniela; Quertermous, Thomas; Trayanova, Natalia A; Quake, Stephen R; Ashley, Euan A | Proceedings of the National Academy of Sciences of the United States of America. | 2016 Oct 11; | 27681629 | |
| Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. | Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. | J Pediatr | 2016 Sep | 27640355 | |
| Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. | Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R | American journal of human genetics. | 2016 Oct 06; | 27640307 | |
| Comparison of Protein N-Homocysteinylation in Rat Plasma under Elevated Homocysteine Using a Specific Chemical Labeling Method. | Zang, Tianzhu; Pottenplackel, Ligi Paul; Handy, Diane E; Loscalzo, Joseph; Dai, Shujia; Deth, Richard C; Zhou, Zhaohui Sunny; Ma, Jisheng | Molecules (Basel, Switzerland). | 2016 Sep 08; | 27617989 | |
| The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons. | Hope, Kevin A; LeDoux, Mark S; Reiter, Lawrence T | Epigenetics. | 2016 09; | 27599063 | |
| Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. | Shahrour, M A;Staretz-Chacham, O;Dayan, D;Stephen, J;Weech, A;Damseh, N;Pri Chen, H;Edvardson, S;Mazaheri, S;Saada, A;;Hershkovitz, E;Shaag, A;Huizing, M;Abu-Libdeh, B;Gahl, W A;Azem, A;Anikster, Y;Vilboux, T;Elpeleg, O;Malicdan, M C | Clin. Genet. | 2017-05-01 | 27573165 | |
| Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. | Wagner, Erin K; Raychaudhuri, Soumya; Villalonga, Mercedes B; Java, Anuja; Triebwasser, Michael P; Daly, Mark J; Atkinson, John P; Seddon, Johanna M | Scientific reports. | 2016 Aug 30; | 27572114 | |
| Genetic Misdiagnoses and the Potential for Health Disparities. | Manrai, Arjun K; Funke, Birgit H; Rehm, Heidi L; Olesen, Morten S; Maron, Bradley A; Szolovits, Peter; Margulies, David M; Loscalzo, Joseph; Kohane, Isaac S | The New England journal of medicine. | 2016 Aug 18; | 27532831 | |
| Phenotypic evolution of UNC80 loss of function. | Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. | Am J Med Genet A | 2016 Aug | 27513830 | |
| Adaptions to Hypoxia and Redox Stress: Essential Concepts Confounded by Misleading Terminology. | Loscalzo, Joseph | Circulation research. | 2016 Aug 5; | 27492841 | |
| Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. | Donti, Taraka R; Masand, Ruchi; Scott, Daryl A; Craigen, William J; Graham, Brett H | Molecular genetics and metabolism | 2016 Sep | 27484306 | |
| Multiplex conditional mutagenesis in zebrafish using the CRISPR/Cas system. | Yin, L; Maddison, L A; Chen, W | Methods in cell biology. | 2016; | 27443918 | |
| The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families. | Guzman J, Lee E, Draper D, Valivullah Z, Yu G, Sincan M, Gahl WA, Adams DR. | Children | 2015 Jul | 27417368 | |
| De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. | Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. | J Med Genet | 2016 Jul | 27389779 | |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. | Lam, Christina;Ferreira, Carlos;Krasnewich, Donna;Toro, Camilo;Latham, Lea;Zein, Wadih M;Lehky, Tanya;Brewer, Carmen;Baker, Eva H;Thurm, Audrey;Farmer, Cristan A;Rosenzweig, Sergio D;Lyons, Jonathan J;Schreiber, John M;Gropman, Andrea;Lingala, Shilpa;Ghany, Marc G;Solomon, Beth;Macnamara, Ellen;Davids, Mariska;Stratakis, Constantine A;Kimonis, Virginia;Gahl, William A;Wolfe, Lynne | Genet. Med. | 2017-02-01 | 27388694 | |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Bashamboo, Anu; Donohoue, Patricia A; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Members of UDN; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P; de Silva, Ksh; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F; McElreavey, Ken; Achermann, John C | Human molecular genetics. | 2016 Aug 15; | 27378692 | |
| Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. | Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD | Brain | 2016 Sep | 27343256 | |
| The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine. | MacRae, Calum A; Vasan, Ramachandran S | Circulation. | 2016 Jun 21; | 27324359 | |
| Endophenotype Network Models: Common Core of Complex Diseases. | Ghiassian, Susan Dina; Menche, Jörg; Chasman, Daniel I; Giulianini, Franco; Wang, Ruisheng; Ricchiuto, Piero; Aikawa, Masanori; Iwata, Hiroshi; Müller, Christian; Zeller, Tania; Sharma, Amitabh; Wild, Philipp; Lackner, Karl; Singh, Sasha; Ridker, Paul M; Blankenberg, Stefan; Barabási, Albert-László; Loscalzo, Joseph | Scientific reports. | 2016 Jun 09; | 27278246 | |
| Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. | Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M. | Genet Med | 2016 Jun | 27253732 | |
| Multidimensional structure-function relationships in human ?-cardiac myosin from population-scale genetic variation. | Homburger, Julian R; Green, Eric M; Caleshu, Colleen; Sunitha, Margaret S; Taylor, Rebecca E; Ruppel, Kathleen M; Metpally, Raghu Prasad Rao; Colan, Steven D; Michels, Michelle; Day, Sharlene M; Olivotto, Iacopo; Bustamante, Carlos D; Dewey, Frederick E; Ho, Carolyn Y; Spudich, James A; Ashley, Euan A | Proceedings of the National Academy of Sciences of the United States of America. | 2016 Jun 14; | 27247418 | |
| Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. | Maduro, Valerie; Pusey, Barbara N; Cherukuri, Praveen F; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R; Bhatt, Samarth S; Eydoux, Patrice; Links, Amanda E; Lehman, Anna; Malicdan, May C; Mason, Christopher E; Mor | Orphanet journal of rare diseases. | 2016 May 14; | 27179618 | |
| Motor phenotypes and molecular networks associated with germline deficiency of Ciz1. | Xiao, Jianfeng; Vemula, Satya R; Xue, Yi; Khan, Mohammad M; Kuruvilla, Korah P; Marquez-Lona, Esther M; Cobb, Madison R; LeDoux, Mark S | Experimental neurology. | 2016 May 7; | 27163549 | |
| The Undiagnosed Diseases Program--Reply. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA. | 2016 May 03; | 27139070 | |
| Illuminating drug action by network integration of disease genes: a case study of myocardial infarction. | Wang, Rui-Sheng; Loscalzo, Joseph | Molecular bioSystems. | 2016 Apr 26; | 27004607 | |
| Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. | Sadat, Roa; Barca, Emanuele; Masand, Ruchi; Donti, Taraka R; Naini, Ali; De Vivo, Darryl C; DiMauro, Salvatore; Hanchard, Neil A; Graham, Brett H | Molecular genetics and metabolism. | 2016 May; | 26992325 | |
| Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. | Rosell, Allyn McConkie; Pena, Loren D M; Schoch, Kelly; Spillmann, Rebecca; Sullivan, Jennifer; Hooper, Stephen R; Jiang, Yong-Hui; Mathey-Andrews, Nicolas; Goldstein, David B; Shashi, Vandana | Journal of genetic counseling. | 2016 Oct; | 26868367 | |
| The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. | Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN.. | Mol Genet Metab | 2016 Apr | 26846157 | |
| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. | Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program., Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. | Am J Hum Genet | 2016 Feb | 26805780 | |
| A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers | Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR Nilsson LA, Nella A, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA | Eur J Pediatr | 2016 May | 26795631 | |
| Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. | Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. | J Med Genet | 2016 Mar | 26668131 | |
| Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. | Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K; NISC Comparative Sequencing Program, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. | BMC Genomics | 2015 Nov 25 | 26602380 | |
| Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. | Burrage, Lindsay C; Miller, Marcus J; Wong, Lee-Jun; Kennedy, Adam D; Sutton, V Reid; Sun, Qin; Elsea, Sarah H; Graham, Brett H | The Journal of pediatrics. | 2016 Feb; | 208-213.e2 | 26602010 |
| Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. | Taruscio D, Groft S, Cederroth H, Melegh B, Lasko P, Kosaki K, Baynam G, McCray A, Gahl WA. | Mol Genet Metab | 2015 Dec | 26596705 | |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. | Bone, William P; Washington, Nicole L; Buske, Orion J; Adams, David R; Davis, Joie; Draper, David; Flynn, Elise D; Girdea, Marta; Godfrey, Rena; Golas, Gretchen; Groden, Catherine; Jacobsen, Julius; Köhler, Sebastian; Lee, Elizabeth M J; Links, Amanda E; Markello, Thomas C; Mungall, Christopher J; Nehrebecky, Michele; Robinson, Peter N; Sincan, Murat; Soldatos, Ariane G; Tifft, Cynthia J; Toro, Camilo; Trang, Heather; Valkanas, Elise; Vasilevsky, Nicole; Wahl, Colleen; Wolfe, Lynne A; Boerkoel, Cornelius F; Brudno, Michael; Haendel, Melissa A; Gahl, William A; Smedley, Damian | Genetics in medicine : official journal of the American College of Medical Genetics. | 2016 Jun; | 26562225 | |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. | Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. | Neuron | 2015 Nov 4 | 26539891 | |
| Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration. | Triebwasser, Michael P; Roberson, Elisha D O; Yu, Yi; Schramm, Elizabeth C; Wagner, Erin K; Raychaudhuri, Soumya; Seddon, Johanna M; Atkinson, John P | Investigative ophthalmology & visual science. | 2015 Oct; | 6873-8 | 26501415 |
| An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. | Cassa, Christopher A; Smith, Stacy E; Docken, William; Hoffman, Erin; McLaughlin, Heather; Chun, Sung; Leshchiner, Ignaty; Miraoui, Hichem; Raychaudhuri, Soumya; Frank, Natasha Y; Wilson, Brian J; Sunyaev, Shamil R; Maas, Richard L; Brigham Genomic Medicine; Vuzman, Dana | Rheumatology (Oxford, England). | 2016 Mar; | 26493744 | |
| Estrogen Metabolite 16?-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism. | Chen, Xinping; Talati, Megha; Fessel, Joshua P; Hemnes, Anna R; Gladson, Santhi; French, Jaketa; Shay, Sheila; Trammell, Aaron; Phillips, John A; Hamid, Rizwan; Cogan, Joy D; Dawson, Elliott P; Womble, Kristie E; Hedges, Lora K; Martinez, Elizabeth G; Wheeler, Lisa A; Loyd, James E; Majka, Susan J; West, James; Austin, Eric D | Circulation. | 2016 Jan 5; | 82-97 | 26487756 |
| Genome engineering: Drosophila melanogaster and beyond. | Venken, Koen J T; Sarrion-Perdigones, Alejandro; Vandeventer, Paul J; Abel, Nicholas S; Christiansen, Audrey E; Hoffman, Kristi L | Wiley interdisciplinary reviews. Developmental biology. | 2016 Mar; | 233-67 | 26447401 |
| Glucagon receptor inactivation leads to ?-cell hyperplasia in zebrafish. | Li, Mingyu; Dean, E Danielle; Zhao, Liyuan; Nicholson, Wendell E; Powers, Alvin C; Chen, Wenbiao | The Journal of endocrinology. | 2015 Nov; | 93-103 | 26446275 |
| Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. | Chopra, Sameer S; Leshchiner, Ignaty; Duzkale, Hatice; McLaughlin, Heather; Giovanni, Monica; Zhang, Chengsheng; Stitziel, Nathan; Fingeroth, Joyce; Joyce, Robin M; Lebo, Matthew; Rehm, Heidi; Vuzman, Dana; Maas, Richard; Sunyaev, Shamil R; Murray, Michael; Cassa, Christopher A | Molecular genetics & genomic medicine. | ; | 26436107 | |
| FGF1 Mediates Overnutrition-Induced Compensatory ?-Cell Differentiation. | Li, Mingyu; Page-McCaw, Patrick; Chen, Wenbiao | Diabetes. | 2016 Jan; | 96-109 | 26420862 |
| The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA. | 2015 Nov 3; | 1797-8 | 26375289 |
| Genetic dissection of the Down syndrome critical region. | Jiang, Xiaoling; Liu, Chunhong; Yu, Tao; Zhang, Li; Meng, Kai; Xing, Zhuo; Belichenko, Pavel V; Kleschevnikov, Alexander M; Pao, Annie; Peresie, Jennifer; Wie, Sarah; Mobley, William C; Yu, Y Eugene | Human molecular genetics. | 2015 Nov 15; | 6540-51 | 26374847 |
| The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. | Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B. | Am J Med Genet A | 2016 Jan | 26373698 | |
| The Matchmaker Exchange: a platform for rare disease gene discovery. | Philippakis, Anthony A; Azzariti, Danielle R; Beltran, Sergi; Brookes, Anthony J; Brownstein, Catherine A; Brudno, Michael; Brunner, Han G; Buske, Orion J; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O M; den Dunnen, Johan T; Firth, Helen V; Gibbs, Richard A; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A; Hamosh, Ada; Holm, Ingrid A; Huang, Lijia; Hurles, Matthew E; Hutton, Ben; Krier, Joel B; Misyura, Andriy; Mungall, Christopher J; Paschall, Justin; Paten, Benedict; Robinson, Peter N; Schiettecatte, François; Sobreira, Nara L; Swaminathan, Ganesh J; Taschner, Peter E; Terry, Sharon F; Washington, Nicole L; Züchner, Stephan; Boycott, Kym M; Rehm, Heidi L | Human mutation. | 2015 Oct; | 915-21 | 26295439 |
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. | Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. | Hum Mutat | 2015 Oct | 26251998 | |
| Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells. | Paull D, Sevilla A, Zhou H, Hahn AK, Kim H, Napolitano C, Tsankov A, Shang L, Krumholz K, Jagadeesan P, Woodard CM, Sun B, Vilboux T, Zimmer M, Forero E, Moroziewicz DN, Martinez H, Malicdan MC, Weiss KA, Vensand LB, Dusenberry CR, Polus H, et al. | Nat Methods | 2015 Sep | 26237226 | |
| Data sharing in the undiagnosed diseases network. | Brownstein, Catherine A; Holm, Ingrid A; Ramoni, Rachel; Goldstein, David B; Members of the Undiagnosed Diseases Network | Human mutation. | 2015 Oct; | 985-8 | 26220576 |
| Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. | Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; de Vries, Bert B A; van Haelst, Mieke M; Zenker, Martin; Markello, Thomas C | American journal of human genetics. | 2015 Jul 2; | 99-110 | 26119818 |
| High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. | Varshney, Gaurav K; Pei, Wuhong; LaFave, Matthew C; Idol, Jennifer; Xu, Lisha; Gallardo, Viviana; Carrington, Blake; Bishop, Kevin; Jones, MaryPat; Li, Mingyu; Harper, Ursula; Huang, Sunny C; Prakash, Anupam; Chen, Wenbiao; Sood, Raman; Ledin, Johan; Burgess, Shawn M | Genome research. | 2015 Jul; | 1030-42 | 26048245 |
| Hhex is Required at Multiple Stages of Adult Hematopoietic Stem and Progenitor Cell Differentiation. | Goodings, Charnise; Smith, Elizabeth; Mathias, Elizabeth; Elliott, Natalina; Cleveland, Susan M; Tripathi, Rati M; Layer, Justin H; Chen, Xi; Guo, Yan; Shyr, Yu; Hamid, Rizwan; Du, Yang; Davé, Utpal P | Stem cells (Dayton, Ohio). | 2015 Aug; | 25968920 | |
| Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, et al. | Mol Genet Metab | 2015 Jun-Jul | 25943031 | |
| Systems medicine: evolution of systems biology from bench to bedside. | Wang, Rui-Sheng; Maron, Bradley A; Loscalzo, Joseph | Wiley interdisciplinary reviews. Systems biology and medicine. | 2015 Jul-Aug; | 141-61 | 25891169 |
| Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. | Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF. | Orphanet J Rare Dis | 2015 Mar 7 | 25888122 | |
| Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension. | Newman, John H; Holt, Timothy N; Cogan, Joy D; Womack, Bethany; Phillips 3rd, John A; Li, Chun; Kendall, Zachary; Stenmark, Kurt R; Thomas, Milton G; Brown, R Dale; Riddle, Suzette R; West, James D; Hamid, Rizwan | Nature communications. | 2015; | 25873470 | |
| Multiplex Conditional Mutagenesis Using Transgenic Expression of Cas9 and sgRNAs. | Yin, Linlin; Maddison, Lisette A; Li, Mingyu; Kara, Nergis; LaFave, Matthew C; Varshney, Gaurav K; Burgess, Shawn M; Patton, James G; Chen, Wenbiao | Genetics. | 2015 Jun; | 431-41 | 25855067 |
| MED23-associated intellectual disability in a non-consanguineous family. | Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. | Am J Med Genet A | 2015 Jun | 25845469 | |
| A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila. | Nagarkar-Jaiswal, Sonal; Lee, Pei-Tseng; Campbell, Megan E; Chen, Kuchuan; Anguiano-Zarate, Stephanie; Gutierrez, Manuel Cantu; Busby, Theodore; Lin, Wen-Wen; He, Yuchun; Schulze, Karen L; Booth, Benjamin W; Evans-Holm, Martha; Venken, Koen J T; Levis, Robert W; Spradling, Allan C; Hoskins, Roger A; Bellen, Hugo J | eLife. | 2015; | 25824290 | |
| Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. | Simons, Cas; Griffin, Laurie B; Helman, Guy; Golas, Gretchen; Pizzino, Amy; Bloom, Miriam; Murphy, Jennifer L P; Crawford, Joanna; Evans, Sarah H; Topper, Scott; Whitehead, Matthew T; Schreiber, John M; Chapman, Kimberly A; Tifft, Cyndi; Lu, Katrina B; Gamper, Howard; Shigematsu, Megumi; Taft, Ryan J; Antonellis, Anthony; Hou, Ya-Ming; Vanderver, Adeline | American journal of human genetics. | 2015 Apr 2; | 675-81 | 25817015 |
| Gene-specific cell labeling using MiMIC transposons. | Gnerer, Joshua P; Venken, Koen J T; Dierick, Herman A | Nucleic acids research. | 2015 Apr 30; | e56 | 25712101 |
| Disease networks. Uncovering disease-disease relationships through the incomplete interactome. | Menche, Jörg; Sharma, Amitabh; Kitsak, Maksim; Ghiassian, Susan Dina; Vidal, Marc; Loscalzo, Joseph; Barabási, Albert-László | Science (New York, N.Y.). | 2015 Feb 20; | 25700523 | |
| Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. | Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. | Hum Mol Genet | 2015 Jun 1 | 25678555 | |
| Rare variants in RTEL1 are associated with familial interstitial pneumonia. | Cogan, Joy D; Kropski, Jonathan A; Zhao, Min; Mitchell, Daphne B; Rives, Lynette; Markin, Cheryl; Garnett, Errine T; Montgomery, Keri H; Mason, Wendi R; McKean, David F; Powers, Julia; Murphy, Elissa; Olson, Lana M; Choi, Leena; Cheng, Dong-Sheng; Blue, Elizabeth Marchani; Young, Lisa R; Lancaster, Lisa H; Steele, Mark P; Brown, Kevin K; Schwarz, Marvin I; Fingerlin, Tasha E; Schwartz, David A; Lawson, William E; Loyd, James E; Zhao, Zhongming; Phillips 3rd, John A; Blackwell, Timothy S | American journal of respiratory and critical care medicine. | 2015 Mar 15; | 646-55 | 25607374 |
| York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. | Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M. | Mol Genet Metab | 2015 Mar | 25577287 | |
| DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. | Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. | Neurology | 2015 Jan 20 | 25527264 | |
| Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease. | Kropski, Jonathan A; Pritchett, Jason M; Zoz, Donald F; Crossno, Peter F; Markin, Cheryl; Garnett, Errine T; Degryse, Amber L; Mitchell, Daphne B; Polosukhin, Vasiliy V; Rickman, Otis B; Choi, Leena; Cheng, Dong-Sheng; McConaha, Melinda E; Jones, Brittany R; Gleaves, Linda A; McMahon, Frank B; Worrell, John A; Solus, Joseph F; Ware, Lorraine B; Lee, Jae Woo; Massion, Pierre P; Zaynagetdinov, Rinat; White, Eric S; Kurtis, Jonathan D; Johnson, Joyce E; Groshong, Steve D; Lancaster, Lisa H; Young, Lisa R; Steele, Mark P; Phillips Iii, John A; Cogan, Joy D; Loyd, James E; Lawson, William E; Blackwell, Timothy S | American journal of respiratory and critical care medicine. | 2015 Feb 15; | 417-26 | 25389906 |
| The National Institutes of Health undiagnosed diseases program. | Tifft CJ, Adams DR. | Curr Opin Pediatr | 2014 Dec | 25313974 | |
| ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. | Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. | Am J Med Genet A | 2014 Nov | 25251875 | |
| A Novel SHOC2 Variant in Rasopathy. | Hannig, Vickie; Jeoung, Myoungkun; Jang, Eun Ryoung; Phillips 3rd, John A; Galperin, Emilia | Human mutation. | 2014 Nov; | 1290-4 | 25137548 |
| Important role of translational science in rare disease innovation, discovery, and drug development. | Pariser AR, Gahl WA. | J Gen Intern Med | 2014 Aug | 25029971 | |
| Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. | Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, et al. | Mol Genet Metab | 2014 Nov | 24863970 | |
| GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. | Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA. | Ann Clin Transl Neurol | 2014 Mar 1 | 24839611 | |
| The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. | Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF. | Genet Med | 2014 Oct | 24784157 | |
| Early-onset stroke and vasculopathy associated with mutations in ADA2. | Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, et al. | N Engl J Med | 2014 Mar 6 | 24552284 | |
| Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. | Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. | J Immunol | 2014 Mar 15 | 24510966 | |
| Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. | Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. | Nat Commun | 24504326 | ||
| iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls. | Prilutsky, Daria; Palmer, Nathan P; Smedemark-Margulies, Niklas; Schlaeger, Thorsten M; Margulies, David M; Kohane, Isaac S | Trends in molecular medicine | 2014 Feb | 91-104 | 24374161 |
| Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. | Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, et al. | Hum Mol Genet | 2014 Jan 15 | 24006476 | |
| Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. | Wu YW, Hess CP, Singhal NS, Groden C, Toro C. | Pediatr Neurol | 2013 Nov | 23968566 | |
| The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. | Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui; Xie, Pingxing; Need, Anna; Goldstein, David B; Goldstein, David G | Genetics in medicine : official journal of the American College of Medical Genetics. | 2014 Feb; | 23928913 | |
| Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. | Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; et al. | Hum Mutat | 2013 Oct | 23857908 | |
| Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. | Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. | Front Med | 2013 Sep | 23856975 | |
| A congenital neutrophil defect syndrome associated with mutations in VPS45. | Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, et al. | N Engl J Med | 2013 Jul 4 | 23738510 | |
| Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. | Brady J, Trehan A, Landis D, Toro C. | BMJ Case Rep | 2013 May 8 | 23661660 | |
| Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. | Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, et al. | Hum Mutat | 2013 Aug | 23649844 | |
| Chronic myopathy due to immunoglobulin light chain amyloidosis. | Manoli I, Kwan JY, Wang Q, Rushing EJ, Tsokos M, Arai AE, Burch WM, Dispenzieri A, McPherron AC, Gahl WA. | Mol Genet Metab | 2013 Apr | 23465863 | |
| Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). | Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. | Neuromuscul Disord | 2013 Jun | 23453856 | |
| Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. | Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF. | Eur J Hum Genet | 2013 Nov | 23443029 | |
| Kearns-Sayre syndrome presenting as isolated growth failure. | Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. | BMJ Case Rep | 2013 Feb 18 | 23420719 | |
| 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. | Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. | Clin J Am Soc Nephrol | 2013 Apr | 23293122 |