Undiagnosed Diseases (126)
Publication TitleAuthorsJournalPublication DatePage NoPubMedID
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, VandanaGenetics in medicine : official journal of the American College of Medical Genetics.2017 Sep 14;28914269
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 JGenetics.2017 Sep;28874452
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 RGenome 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 BNature communications.2017 Aug 09;28794409
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, BingNeuron.2017 Aug 02;28712652
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, AnthonyHuman 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 MeLife.2017 Jun 29;28661399
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 MMolecular 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, YiNature methods.2017 Jul;28581494
Building dialogues between clinical and biomedical research through cross-species collaborations.Chao, Hsiao-Tuan; Liu, Lucy; Bellen, Hugo JSeminars 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 JeLife.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, ToddGenetics.2017 Jul;28512187
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 JAmerican journal of human genetics.2017 Jun 01;28502612
Chloride Dysregulation, Seizures, and Cerebral Edema: A Relationship with Therapeutic Potential.Glykys, Joseph; Dzhala, Volodymyr; Egawa, Kiyoshi; Kahle, Kristopher T; Delpire, Eric; Staley, KevinTrends 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, VandanaOrphanet journal of rare diseases.2017 Apr 17;28416019
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, CarolCell.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, YapingNature genetics.2017 Apr;28288113
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
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 JJournal of molecular modeling.2017 Mar;28204942
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 LAmerican 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, VandanaAmerican journal of human genetics.2017 Feb 02;28132692
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, ShanJournal of human genetics.2017 Jan 26;28123174
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, FannyAmerican journal of human genetics.2017 Jan 05;28061364
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 TCold Spring Harbor molecular case studies.2017 Jan;28050602
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 CHuman molecular genetics.2016 Dec 27;28031288
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 VAmerican journal of human genetics.2017 Jan 05;28017372
Challenges of Finding Novel Drugs Targeting the K-Cl Cotransporter.Delpire, Eric; Weaver, C DavidACS chemical neuroscience.2016 Dec 21;27998063
Responses to reductive stress in the cardiovascular system.Handy, Diane E; Loscalzo, JosephFree 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 RCold 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, MaximilianClinical 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 SNeurobiology of disease.2017 Feb;27890709
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Oprescu, Stephanie N; Griffin, Laurie B; Beg, Asim A; Antonellis, AnthonyMethods (San Diego, Calif.).;27876679
Zebrafish Genome Engineering Using the CRISPR-Cas9 System.Li, Mingyu; Zhao, Liyuan; Page-McCaw, Patrick S; Chen, WenbiaoTrends 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 A2016 Oct27792857
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 Genet2016 Oct27776118
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 SNature.2016 10 20;27762356
Genomic sequencing in clinical practice: applications, challenges, and opportunities.Krier, Joel B; Kalia, Sarah S; Green, Robert CDialogues 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-LászlóScientific 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, FannyAmerican 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 AProceedings 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 Pediatr2016 Sep27640355
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 RAmerican 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, JishengMolecules (Basel, Switzerland).2016 Sep 08;27617989
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 MScientific 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 SThe 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 A2016 Aug27513830
Adaptions to Hypoxia and Redox Stress: Essential Concepts Confounded by Misleading Terminology.Loscalzo, JosephCirculation 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 HMolecular genetics and metabolism2016 Sep27484306
Multiplex conditional mutagenesis in zebrafish using the CRISPR/Cas system.Yin, L; Maddison, L A; Chen, WMethods 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.Children2015 Jul27417368
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 Genet2016 Jul27389779
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 CHuman 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 BDBrain2016 Sep27343256
The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine.MacRae, Calum A; Vasan, Ramachandran SCirculation.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, JosephScientific 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 Med2016 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 AProceedings 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; MorOrphanet 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 SExperimental neurology.2016 May 7;27163549
The Undiagnosed Diseases Program--Reply.Gahl, William A; Wise, Anastasia L; Ashley, Euan AJAMA.2016 May 03;27139070
Illuminating drug action by network integration of disease genes: a case study of myocardial infarction.Wang, Rui-Sheng; Loscalzo, JosephMolecular 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 HMolecular 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, VandanaJournal 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 Metab2016 Apr26846157
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 Genet2016 Feb26805780
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothersSchernthaner-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 CAEur J Pediatr 2016 May26795631
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 Genet2016 Mar26668131
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 2526602380
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 HThe Journal of pediatrics.2016 Feb;208-213.e226602010
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 Dec26596705
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, DamianGenetics 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.Neuron2015 Nov 426539891
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 PInvestigative ophthalmology & visual science.2015 Oct;6873-826501415
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, DanaRheumatology (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 DCirculation.2016 Jan 5;82-9726487756
Genome engineering: Drosophila melanogaster and beyond.Venken, Koen J T; Sarrion-Perdigones, Alejandro; Vandeventer, Paul J; Abel, Nicholas S; Christiansen, Audrey E; Hoffman, Kristi LWiley interdisciplinary reviews. Developmental biology.2016 Mar;233-6726447401
Glucagon receptor inactivation leads to ?-cell hyperplasia in zebrafish.Li, Mingyu; Dean, E Danielle; Zhao, Liyuan; Nicholson, Wendell E; Powers, Alvin C; Chen, WenbiaoThe Journal of endocrinology.2015 Nov;93-10326446275
FGF1 Mediates Overnutrition-Induced Compensatory ?-Cell Differentiation.Li, Mingyu; Page-McCaw, Patrick; Chen, WenbiaoDiabetes.2016 Jan;96-10926420862
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.Gahl, William A; Wise, Anastasia L; Ashley, Euan AJAMA.2015 Nov 3;1797-826375289
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 EugeneHuman molecular genetics.2015 Nov 15;6540-5126374847
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 Jan26373698
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 LHuman mutation.2015 Oct;915-2126295439
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 Mutat2015 Oct26251998
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 Sep26237226
Data sharing in the undiagnosed diseases network.Brownstein, Catherine A; Holm, Ingrid A; Ramoni, Rachel; Goldstein, David B; Members of the Undiagnosed Diseases NetworkHuman mutation.2015 Oct;985-826220576
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 CAmerican journal of human genetics.2015 Jul 2;99-11026119818
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 MGenome research.2015 Jul;1030-4226048245
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-Jul25943031
Systems medicine: evolution of systems biology from bench to bedside.Wang, Rui-Sheng; Maron, Bradley A; Loscalzo, JosephWiley interdisciplinary reviews. Systems biology and medicine.2015 Jul-Aug;141-6125891169
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 725888122
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, RizwanNature 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, WenbiaoGenetics.2015 Jun;431-4125855067
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 Jun25845469
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 JeLife.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, AdelineAmerican journal of human genetics.2015 Apr 2;675-8125817015
Gene-specific cell labeling using MiMIC transposons.Gnerer, Joshua P; Venken, Koen J T; Dierick, Herman ANucleic acids research.2015 Apr 30;e5625712101
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-LászlóScience (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 125678555
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 SAmerican journal of respiratory and critical care medicine.2015 Mar 15;646-5525607374
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 Mar25577287
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 2025527264
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 SAmerican journal of respiratory and critical care medicine.2015 Feb 15;417-2625389906
The National Institutes of Health undiagnosed diseases program.Tifft CJ, Adams DR.Curr Opin Pediatr 2014 Dec25313974
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 Nov25251875
A Novel SHOC2 Variant in Rasopathy.Hannig, Vickie; Jeoung, Myoungkun; Jang, Eun Ryoung; Phillips 3rd, John A; Galperin, EmiliaHuman mutation.2014 Nov;1290-425137548
Important role of translational science in rare disease innovation, discovery, and drug development.Pariser AR, Gahl WA.J Gen Intern Med 2014 Aug25029971
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 Nov24863970
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 124839611
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 Oct24784157
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 624552284
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 1524510966
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 Commun24504326
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 STrends in molecular medicine2014 Feb91-10424374161
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 1524006476
Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.Wu YW, Hess CP, Singhal NS, Groden C, Toro C.Pediatr Neurol 2013 Nov23968566
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 GGenetics 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 Oct23857908
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 Sep23856975
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 423738510
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.Brady J, Trehan A, Landis D, Toro C.BMJ Case Rep 2013 May 823661660
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 Aug23649844
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 Apr23465863
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 Jun23453856
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 Nov23443029
Kearns-Sayre syndrome presenting as isolated growth failure.Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF.BMJ Case Rep 2013 Feb 1823420719
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 Apr23293122