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Undiagnosed Diseases (78)
Publication TitleAuthorsJournalPublication DatePage NoPubMedID
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
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
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
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
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
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
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
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
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
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


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