Research
"The UDN, based on a pilot program launched in 2008 at the NIH Clinical Center in Bethesda, Maryland, is developing approaches for the diagnosis of difficult-to-solve medical cases. Along with traditional methods, doctors pursue medical diagnoses for patients by analyzing DNA sequence, which can reveal variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and inexpensive technology that only recently has been used for patient diagnosis.
Genome sequencing for patients from the NIH Undiagnosed Diseases Program (UDP) has identified individual variation in genes that clinical researchers want to understand better, especially how their function or malfunction may affect a disease condition. Investigation of gene function is a critical step in the process leading to diagnoses and potential treatments for patients with these rare or new diseases."
Diagnoses and Research from the Stanford Team
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network, Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19.PMID: 34668327. Full text
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting
Gorzynski JE, Goenka SD, Shafin K, Jensen TD, Fisk DG, Grove ME, Spiteri E, Pesout T, Monlong J, Baid G, Bernstein JA, Ceresnak S, Chang PC, Christle JW, Chubb H, Dalton KP, Dunn K, Garalde DR, Guillory J, Knowles JW, Kolesnikov A, Ma M, Moscarello T, Nattestad M, Perez M, Ruzhnikov MRZ, Samadi M, Setia A, Wright C, Wusthoff CJ, Xiong K, Zhu T, Jain M, Sedlazeck FJ, Carroll A, Paten B, Ashley EA. N Engl J Med. 2022 Feb 17;386(7):700-702. doi: 10.1056/NEJMc2112090. Epub 2022 Jan 12.PMID: 35020984. Full text
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics
Halley MC, Young JL, Fernandez L, Kohler JN; Undiagnosed Diseases Network, Bernstein JA, Wheeler MT, Tabor HK. Am J Med Genet A. 2022 Jan 3. doi: 10.1002/ajmg.a.62619. Online ahead of print.PMID: 34981646. Full text
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation
Kohler JN, Kelley EG, Boyd BM, Sillari CH, Marwaha S; Undiagnosed Diseases Network, Wheeler MT. J Genet Couns. 2021 Aug 10. doi: 10.1002/jgc4.1493. Online ahead of print.PMID: 34374469. Full text
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey
Deuitch NT, Beckman E, Halley MC, Young JL, Reuter CM, Kohler J, Bernstein JA, Wheeler MT; Undiagnosed Diseases Network, Ormond KE, Tabor HK. J Genet Couns. 2021 Dec;30(6):1707-1718. doi: 10.1002/jgc4.1438. Epub 2021 Jun 6.PMID: 34096130. Full text
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363.PMID: 34291734. Full text
Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome
Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J; Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH. J Allergy Clin Immunol. 2021 Mar 23:S0091-6749(21)00471-1. PMID: 3377155. Full text
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium, Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Nat Genet. 2021 Mar;53(3):313-321. PMID: 33664507. Full text
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Genet Med. 2021 Feb;23(2):259-271. PMID: 33093671. Full text
"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic
Halley MC, Stanley T, Maturi J, Goldenberg AJ, Bernstein JA, Wheeler MT, Tabor HK. Genet Med. 2021 Jan 8:1-8. PMID: 33420343. Full text
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. PMID: 32681751. Full text
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck , Emily G. Farrow,, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie , Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sebastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, HsiaoTuan Chao. Am J Hum Genet. 2020 Apr 2;106(4):570-583. PMID:32197074. Full text
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda Mirzaa, M.D., Jessica X. Chong, Ph.D., Amélie Piton, M.D., Bernt Popp, M.D., Kimberly Foss, M.S., Hui Guo, Ph.D., Ricardo Harripaul, M.Sc., Kun Xia, Ph.D., Joshua Scheck, B.S., Kimberly A. Aldinger, Ph.D., Samin A. Sajan, Ph.D., Sha Tang, Ph.D., Dominique Bonneau, M.D., Ph.D., Anita Beck, M.D., Ph.D., Janson White, Ph.D., Sonal Mahida, M.G.C., C.G.C., Jacqueline Harris, M.D., Constance Smith-Hicks, M.D., Ph.D., Juliane Hoyer, M.D., Christiane Zweier, M.D., Ph.D., André Reis, M.D., Christian T. Thiel, M.D., Rami Abou Jamra, M.D., Natasha Zeid, M.S., C.G.C., Amy Yang, M.D., Laura S. Farach, M.D., Laurence Walsh, M.D., Katelyn Payne, M.S., C.G.C., Luis Rohena, M.D., Milen Velinov, M.D., Ph.D., Alban Ziegler, M.D., Elise Schaefer, M.D., Ph.D., Vincent Gatinois, M.D., Ph.D.,, David Geneviève, M.D., Ph.D.,, Marleen E.H. Simon, M.D., Jennefer Kohler, M.S., Joshua Rotenberg, M.D., Patricia Wheeler, M.D., Austin Larson, M.D., Michelle E. Ernst, M.S., C.G.C., Cigdem I. Akman, M.D., Rachel Westman, M.S., C.G.C, Patricia Blanchet, M.D., Lori-Anne Schillaci, M.D., Catherine Vincent-Delorme, M.D., Karen W. Gripp, M.D., Francesca Mattioli, Ph.D., Gwenaël Le Guyader, M.D., Ph.D., Bénédicte Gerard, M.D., Michèle Mathieu-Dramard, M.D., Gilles Morin, M.D., Roksana Sasanfar, M.D., Muhammad Ayub, M.D., Nasim Vasli, Ph.D., Sandra Yang, M.S., C.G.C., Rick Person, Ph.D., Kristin G. Monaghan, Ph.D., Deborah A. Nickerson, Ph.D., Ellen van Binsbergen, M.D., Gregory M Enns, M.B.Ch.B., Annika M Dries, B.S., Leah J Rowe, M.S., C.G.C., Anne CH Tsai, M.D., Shayna Svihovec, M.S., C.G.C., Jennifer Friedman, M.D., Zehra Agha, M.D., Raheel Qamar, M.D., Lance H. Rodan, M.D., Julian Martinez-Agosto, M.D., Ph.D., Charlotte W. Ockeloen, M.D., Marie Vincent, M.D., William James Sunderland, Ph.D., Jonathan A. Bernstein, M.D., Ph.D., Undiagnosed Diseases Network, Evan E. Eichler, Ph.D., John B. Vincent, Ph.D., University of Washington Center for Mendelian Genomics (UW-CMG), and Michael J. Bamshad, M.D. Genet Med. 2020 Mar; 22(3): 538–546. PMID: 31723249. Full text
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Acta Neuropathol.2019 Dec 9. PMID:31820119. Full text
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. Am J Med Genet A. 2019 Jun;179(6):966-977. PMID:30920161. Full text
Genotype-phenotype correlations in individuals with pathogenic RERE variants
Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J. Wapner, Tugce B. Balci, Melissa T. Carter, John A. Bernat, Amanda N. Moccia, Anshika Srivastava, Donna M. Martin, Stephanie L. Bielas, John Pappas, Melissa D. Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis,, Fernando Scaglia, Undiagnosed Diseases Network, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi, and Daryl A. Scott. Hum Mutat. 2018 May; 39(5): 666–675. PMID:29330883. Full text
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M. Davidson, Jennifer E. Kyle, Megan E. Grove, Dianna G. Fisk, Jennefer N. Kohler, Matthew Holmes, Annika M. Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M. Zink, Young-Mo Kim, Heino M. Heyman, Kelly G. Stratton, Bobbie-Jo M. Webb-Robertson, Undiagnosed Diseases Network, Michael Snyder, Jason D. Merker, Stephen B. Montgomery, Paul G. Fisher, René G. Feichtinger, Johannes A. Mayr, Julie Hall, Ines A. Barbosa, Michael A. Simpson, Charu Deshpande, Katrina M. Waters, David M. Koeller, Thomas O. Metz, Andrew A. Morris, Susan Schelley, Tina Cowan, Marisa W. Friederich, Robert McFarland, Johan L.K. Van Hove, Gregory M. Enns, Shinya Yamamoto, Euan A. Ashley, Michael F. Wangler, Robert W. Taylor, Hugo J. Bellen, Jonathan A. Bernstein, and Matthew T. Wheeler. Am J Hum Genet. 2018 Mar 1; 102(3): 494–504. PMID:29478781. Full text
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype
Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT. Cold Spring Harbor Molecular Case Studies. 2017 Jan; 3(1) a001388. Full text
Featured Papers on the Undiagnosed Diseases Network
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R; UndiagnosedDiseases Network, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. J Genet Couns.2019 Dec;28(6):1107-1118. PMID:31478310. Full text
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. Genet Med.2019 Jul;21(7):1585-1593. PMID:30514889. Full text
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; CareRare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Nat Med.2019 Jun;25(6):911-919. PMID:31160820. Full text
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT. J Genet Couns. 2019;28:213-228. PMID:30964584. Full text
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. N Engl J Med.2018 Nov 29;379(22):2131-2139. PMID:30304647. Full text
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Reuter CM, Brimble E, DeFilippo C, Dries AM, Undiagnosed Diseases Network, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT. J Pediatr. 2018 Jan 11. pii: S0022-3476(17)31723-7. Full text
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA. Genet Med. 2018 Jan;20(1): 159-163. Full text
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL. Am J Hum Genet. 2017 Feb 2;100(2):185-192. Full text
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
Gahl WA, Wise AL, Ashley, EA. JAMA. 2015 Nov 3;314(17):1797-1798. Full text
The NIH Undiagnosed Diseases Program: lessons learned
Gahl WA, Tifft CJ. JAMA. 2011 May 11;305(18):1904-5. doi: 10.1001/jama.2011.613. Full text
Other Selected Works
2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
Gahl, William A, Mulvihill, John J, Toro, Camilo, Markello, Thomas C, Wise, Anastasia L, Ramoni, Rachel B, Adams, David R, Tifft, Cynthia J, and Members of the UDN. Molecular genetics and metabolism 117.4 (2016): 393-400.
2015
Data Sharing in the Undiagnosed Diseases Network
Brownstein, Catherine A, Holm, Ingrid A, Ramoni, Rachel, Goldstein, David B, and Members of the Undiagnosed Diseases Network. Human mutation 36.10 (2015): 985-988.
2014
Clinical Interpretation and Implications of Whole-Genome Sequencing
Frederick E. Dewey, MD1,2,3,4; Megan E. Grove, MS1,2,3,4; Cuiping Pan, PhD4,5; Benjamin A. Goldstein, PhD6; Jonathan A. Bernstein, MD, PhD7; Hassan Chaib, PhD4,5; Jason D. Merker, MD, PhD8; Rachel L. Goldfeder, BS9; Gregory M. Enns, MB, ChB7; Sean P. David, MD, DPhil6; Neda Pakdaman, MD6; Kelly E. Ormond, MS5,10; Colleen Caleshu, MS1,2,3,7; Kerry Kingham, MS11; Teri E. Klein, PhD5; Michelle Whirl-Carrillo, PhD5; Kenneth Sakamoto, MD3,6; Matthew T. Wheeler, MD, PhD1,2,3,4; Atul J. Butte, MD, PhD7,12; James M. Ford, MD, PhD11; Linda Boxer, MD6; John P. A. Ioannidis, MD, PhD6,12,14,15; Alan C. Yeung, MD2,3; Russ B. Altman, MD, PhD5,6,16; Themistocles L. Assimes, MD, PhD2,3; Michael Snyder, PhD2,4,5; Euan A. Ashley, MRCP, DPhil1,2,3,4,5; Thomas Quertermous, MD1,2,3,4. JAMA. 2014 Mar;12. Full text
Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway
Gregory M. Enns, MB, ChB,1,* Vandana Shashi, MD, MBBS,2,* Matthew Bainbridge, PhD,3,* Michael J. Gambello, MD, PhD,4 Farah R. Zahir, PhD,5 Thomas Bast, MD,6 Rebecca Crimian, MS,2 Kelly Schoch, MS,2 Julia Platt, MS,1 Rachel Cox, MS,1 Jonathan Bernstein, MD, PhD,1 Mena Scavina, DO,7 Rhonda S. Walter, MD,8 Audrey Bibb, MS,4 Melanie Jones, PhD,4 Madhuri Hegde, PhD,4 Brett H. Graham, MD, PhD,3 Anna C. Need, PhD,9 Angelica Oviedo, MD,10 Christian P. Schaaf, MD, PhD,3,11 Sean Boyle, PhD,12 Atul J. Butte, MD, PhD,12 Rong Chen, PhD,12 Michael J. Clark, PhD,12 Rajini Haraksingh, PhD,12 Tina M. Cowan, PhD,13 FORGE Canada Consortium,14 Ping He, MD, PhD,15 Sylvie Langlois, MD,5 Huda Y. Zoghbi, MD,3,11,16 Michael Snyder, PhD,12 Richard Gibbs, PhD,3 Hudson H. Freeze, PhD,15 and David B. Goldstein, PhD17,18. Genetics in Medicine. 2014 Oct;16. Full text
2012
The NIH Undiagnosed Diseases Program: bonding scientists and clinicians
Gahl WA, Boerkoel CF, Boehm M. Dis Model Mech. 2012 Jan;5(1):3-5. doi: 10.1242/dmm.009258. Full text
2011
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Frederick E. Dewey, Rong Chen, Sergio P. Cordero, Kelly E. Ormond, Colleen Caleshu, Konrad J. Karczewski, Michelle Whirl-Carrillo, Matthew T. Wheeler, Joel T. Dudley, Jake K. Byrnes, Omar E. Cornejo, Joshua W. Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F. Thorn, Joan M. Hebert, Emidio Capriotti, Sean P. David, Aleksandra Pavlovic, Anne West, Joseph V. Thakuria, Madeleine P. Ball, Alexander W. Zaranek, Heidi L. Rehm, George M. Church, John S. West, Carlos D. Bustamante, Michael Snyder, Russ B. Altman, Teri E. Klein, Atul J. Butte, Euan A. Ashley. PLOS Genetics. 2011 Sept;15. Full text
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Full text
Photography credit: Mark Tuschman 2009