These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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; Mol Genet Metab; 2016 Apr; 117(4):393-400. PubMed ID: 26846157 [TBL] [Abstract][Full Text] [Related]
3. 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; ; Cogan J; Bernstein JA; Adams DR; McCray AT; Shashi V Genet Med; 2021 Feb; 23(2):259-271. PubMed ID: 33093671 [TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 22237431 [TBL] [Abstract][Full Text] [Related]
5. 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; 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; N Engl J Med; 2018 Nov; 379(22):2131-2139. PubMed ID: 30304647 [TBL] [Abstract][Full Text] [Related]
6. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless. Wallis M; Bodek SD; Munro J; Rafehi H; Bennett MF; Ye Z; Schneider A; Gardiner F; Valente G; Murdoch E; Uebergang E; Hunter J; Stutterd C; Huq A; Salmon L; Scheffer I; Eratne D; Meyn S; Fong CY; John T; Mullen S; White SM; Brown NJ; McGillivray G; Chen J; Richmond C; Hughes A; Krzesinski E; Fennell A; Chambers B; Santoreneos R; Le Fevre A; Hildebrand MS; Bahlo M; Christodoulou J; Delatycki M; Berkovic SF Orphanet J Rare Dis; 2024 Aug; 19(1):288. PubMed ID: 39095811 [TBL] [Abstract][Full Text] [Related]
7. Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network. Amiri H; Kohane IS; JAMA Netw Open; 2021 Feb; 4(2):e2036220. PubMed ID: 33630084 [TBL] [Abstract][Full Text] [Related]
8. Data sharing in the undiagnosed diseases network. Brownstein CA; Holm IA; Ramoni R; Goldstein DB; Hum Mutat; 2015 Oct; 36(10):985-8. PubMed ID: 26220576 [TBL] [Abstract][Full Text] [Related]
9. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Taruscio D; Groft SC; Cederroth H; Melegh B; Lasko P; Kosaki K; Baynam G; McCray A; Gahl WA Mol Genet Metab; 2015 Dec; 116(4):223-5. PubMed ID: 26596705 [TBL] [Abstract][Full Text] [Related]
10. 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; ; Wise AL Am J Hum Genet; 2017 Feb; 100(2):185-192. PubMed ID: 28157539 [TBL] [Abstract][Full Text] [Related]
11. What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing? Murdock DR; Rosenfeld JA; Lee B Annu Rev Med; 2022 Jan; 73():575-585. PubMed ID: 35084988 [TBL] [Abstract][Full Text] [Related]
12. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Pinto E Vairo F; Kemppainen JL; Vitek CRR; Whalen DA; Kolbert KJ; Sikkink KJ; Kroc SA; Kruisselbrink T; Shupe GF; Knudson AK; Burke EM; Loftus EC; Bandel LA; Prochnow CA; Mulvihill LA; Thomas B; Gable DM; Graddy CB; Garzon GGM; Ekpoh IU; Porquera EMC; Fervenza FC; Hogan MC; El Ters M; Warrington KJ; Davis JM; Koster MJ; Orandi AB; Basiaga ML; Vella A; Kumar S; Creo AL; Lteif AN; Pittock ST; Tebben PJ; Abate EG; Joshi AY; Ristagno EH; Patnaik MS; Schimmenti LA; Dhamija R; Sabrowsky SM; Wierenga KJ; Keddis MT; Samadder NJJ; Presutti RJ; Robinson SI; Stephens MC; Roberts LR; Faubion WA; Driscoll SW; Wong-Kisiel LC; Selcen D; Flanagan EP; Ramanan VK; Jackson LM; Mauermann ML; Ortega VE; Anderson SA; Aoudia SL; Klee EW; McAllister TM; Lazaridis KN J Transl Med; 2023 Jun; 21(1):410. PubMed ID: 37353797 [TBL] [Abstract][Full Text] [Related]
13. The National Institutes of Health undiagnosed diseases program. Tifft CJ; Adams DR Curr Opin Pediatr; 2014 Dec; 26(6):626-33. PubMed ID: 25313974 [TBL] [Abstract][Full Text] [Related]
14. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA; Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976 [TBL] [Abstract][Full Text] [Related]
15. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Baldridge D; Wangler MF; Bowman AN; Yamamoto S; ; Schedl T; Pak SC; Postlethwait JH; Shin J; Solnica-Krezel L; Bellen HJ; Westerfield M Orphanet J Rare Dis; 2021 May; 16(1):206. PubMed ID: 33962631 [TBL] [Abstract][Full Text] [Related]
16. SpainUDP: The Spanish Undiagnosed Rare Diseases Program. López-Martín E; Martínez-Delgado B; Bermejo-Sánchez E; Alonso J; ; Posada M Int J Environ Res Public Health; 2018 Aug; 15(8):. PubMed ID: 30110963 [TBL] [Abstract][Full Text] [Related]
18. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Marwaha S; Knowles JW; Ashley EA Genome Med; 2022 Feb; 14(1):23. PubMed ID: 35220969 [TBL] [Abstract][Full Text] [Related]
19. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Cloney T; Gallacher L; Pais LS; Tan NB; Yeung A; Stark Z; Brown NJ; McGillivray G; Delatycki MB; de Silva MG; Downie L; Stutterd CA; Elliott J; Compton AG; Lovgren A; Oertel R; Francis D; Bell KM; Sadedin S; Lim SC; Helman G; Simons C; Macarthur DG; Thorburn DR; O'Donnell-Luria AH; Christodoulou J; White SM; Tan TY J Med Genet; 2022 Aug; 59(8):748-758. PubMed ID: 34740920 [TBL] [Abstract][Full Text] [Related]
20. The Undiagnosed Diseases Network International: Five years and more! Taruscio D; Baynam G; Cederroth H; Groft SC; Klee EW; Kosaki K; Lasko P; Melegh B; Riess O; Salvatore M; Gahl WA Mol Genet Metab; 2020 Apr; 129(4):243-254. PubMed ID: 32033911 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]