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Items: 1 to 20 of 102

1.

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, Lee YJ, Kim YO, Kim JS, Kim WS, Kwon YS, Park JD, Ahn Y, Hwang JY, Park HY, Lee Y, Choi M, Chae JH.

Orphanet J Rare Dis. 2019 Mar 20;14(1):68. doi: 10.1186/s13023-019-1041-5.

2.

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.

3.

How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program.

Kliegman RM, Bordini BJ, Basel D, Nocton JJ.

Pediatr Clin North Am. 2017 Feb;64(1):1-15. doi: 10.1016/j.pcl.2016.08.002. Review.

PMID:
27894438
4.

Initiating an undiagnosed diseases program in the Western Australian public health system.

Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J.

Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z.

5.

SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network, Posada M.

Int J Environ Res Public Health. 2018 Aug 14;15(8). pii: E1746. doi: 10.3390/ijerph15081746.

6.

Clinical utility of serologic testing for celiac disease in ontario: an evidence-based analysis.

Medical Advisory Secretariat.

Ont Health Technol Assess Ser. 2010;10(21):1-111. Epub 2010 Dec 1.

7.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

8.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
9.

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.

Gainotti S, Mascalzoni D, Bros-Facer V, Petrini C, Floridia G, Roos M, Salvatore M, Taruscio D.

Int J Environ Res Public Health. 2018 Sep 21;15(10). pii: E2072. doi: 10.3390/ijerph15102072. Review.

10.

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J.

Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7.

11.

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD).

Adachi T, Imanishi N, Ogawa Y, Furusawa Y, Izumida Y, Izumi Y, Suematsu M.

Orphanet J Rare Dis. 2018 Nov 20;13(1):208. doi: 10.1186/s13023-018-0943-y.

12.

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.

Macnamara EF, Schoch K, Kelley EG, Fieg E, Brokamp E; Undiagnosed Diseases Network, Signer R, LeBlanc K, McConkie-Rosell A, Palmer CGS.

J Genet Couns. 2019 Apr;28(2):194-201. doi: 10.1002/jgc4.1091. Epub 2019 Jan 24.

PMID:
30680851
13.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study.

Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.

14.

Dementia -- Caring, Ethics, Ethnical and Economical Aspects: A Systematic Review [Internet].

Swedish Council on Health Technology Assessment.

Stockholm: Swedish Council on Health Technology Assessment (SBU); 2008 Jun.

15.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.

Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB.

Genet Med. 2014 Feb;16(2):176-82. doi: 10.1038/gim.2013.99. Epub 2013 Aug 29. Erratum in: Genet Med. 2013 Oct;15(10):849. Goldstein, David G [corrected to Goldstein, David B].

PMID:
23928913
16.

Italian cancer figures--Report 2015: The burden of rare cancers in Italy.

AIRTUM Working Group, Busco S, Buzzoni C, Mallone S, Trama A, Castaing M, Bella F, Amodio R, Bizzoco S, Cassetti T, Cirilli C, Cusimano R, De Angelis R, Fusco M, Gatta G, Gennaro V, Giacomin A, Giorgi Rossi P, Mangone L, Mannino S, Rossi S, Pierannunzio D, Tavilla A, Tognazzo S, Tumino R, Vicentini M, Vitale MF, Crocetti E, Dal Maso L.

Epidemiol Prev. 2016 Jan-Feb;40(1 Suppl 2):1-120. doi: 10.19191/EP16.1S2.P001.035. Erratum in: Epidemiol Prev. 2016 Mar-Apr;40(2):83.

17.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM.

JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755.

18.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB.

Clin Genet. 2016 Jun;89(6):700-7. doi: 10.1111/cge.12732. Epub 2016 Apr 26.

PMID:
26757139
19.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

20.

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang YH, Mathey-Andrews N, Goldstein DB, Shashi V.

J Genet Couns. 2016 Oct;25(5):1019-31. doi: 10.1007/s10897-016-9933-1. Epub 2016 Feb 12.

PMID:
26868367

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