252 related articles for article (PubMed ID: 27894449)
1. Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis.
Basel D; McCarrier J
Pediatr Clin North Am; 2017 Feb; 64(1):265-272. PubMed ID: 27894449
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 26868367
[TBL] [Abstract][Full Text] [Related]
3. The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen MT; Charlebois K
Clin Genet; 2015 Oct; 88(4):313-9. PubMed ID: 25421945
[TBL] [Abstract][Full Text] [Related]
4. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN; Schahl KA; Cousin MA; Babovic-Vuksanovic D; Riegert-Johnson DL; Gavrilova RH; McAllister TM; Lindor NM; Abraham RS; Ackerman MJ; Pichurin PN; Deyle DR; Gavrilov DK; Hand JL; Klee EW; Stephens MC; Wick MJ; Atkinson EJ; Linden DR; Ferber MJ; Wieben ED; Farrugia G;
Mayo Clin Proc; 2016 Mar; 91(3):297-307. PubMed ID: 26944241
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 26757139
[TBL] [Abstract][Full Text] [Related]
6. Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?
Wu AC; McMahon P; Lu C
JAMA Pediatr; 2020 Sep; 174(9):821-822. PubMed ID: 32597967
[No Abstract] [Full Text] [Related]
7. Attaining Diagnostic Excellence: How the Structure and Function of a Rare Disease Service Contribute to Ending the Diagnostic Odyssey.
Bordini BJ; Walsh RD; Basel D; Deshmukh T
Med Clin North Am; 2024 Jan; 108(1):1-14. PubMed ID: 37951644
[TBL] [Abstract][Full Text] [Related]
8. Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Boeldt DL; Cheung C; Ariniello L; Darst BF; Topol S; Schork NJ; Philis-Tsimikas A; Torkamani A; Fortmann AL; Bloss CS
Per Med; 2017 Jan; 14(1):17-25. PubMed ID: 29749824
[TBL] [Abstract][Full Text] [Related]
9. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
Tetreault M; Bareke E; Nadaf J; Alirezaie N; Majewski J
Expert Rev Mol Diagn; 2015 Jun; 15(6):749-60. PubMed ID: 25959410
[TBL] [Abstract][Full Text] [Related]
10. Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.
Krabbenborg L; Vissers LE; Schieving J; Kleefstra T; Kamsteeg EJ; Veltman JA; Willemsen MA; Van der Burg S
J Genet Couns; 2016 Dec; 25(6):1207-1214. PubMed ID: 27098417
[TBL] [Abstract][Full Text] [Related]
11. A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter CM; Brimble E; DeFilippo C; Dries AM; ; Enns GM; Ashley EA; Bernstein JA; Fisher PG; Wheeler MT
J Pediatr; 2018 May; 196():291-297.e2. PubMed ID: 29331327
[No Abstract] [Full Text] [Related]
12. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A; Thauvin-Robinet C; Lehalle D; Bruel AL; Masurel-Paulet A; Jean N; Nambot S; Willems M; Lambert L; El Chehadeh-Djebbar S; Schaefer E; Jaquette A; St-Onge J; Poe C; Jouan T; Chevarin M; Callier P; Mosca-Boidron AL; Laurent N; Lefebvre M; Huet F; Houcinat N; Moutton S; Philippe C; Tran-Mau-Them F; Vitobello A; Kuentz P; Duffourd Y; Rivière JB; Thevenon J; Faivre L
Eur J Med Genet; 2017 Nov; 60(11):595-604. PubMed ID: 28807864
[TBL] [Abstract][Full Text] [Related]
13. 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; ; Signer R; LeBlanc K; McConkie-Rosell A; Palmer CGS
J Genet Couns; 2019 Apr; 28(2):194-201. PubMed ID: 30680851
[TBL] [Abstract][Full Text] [Related]
14. After genomic testing results: Parents' long-term views.
Liang NSY; Adam S; Elliott AM; Siemens A; du Souich C; ; ; Friedman JM; Birch P
J Genet Couns; 2022 Feb; 31(1):82-95. PubMed ID: 34165210
[TBL] [Abstract][Full Text] [Related]
15. Assessment of whole-exome sequencing results in neurogenetic diseases.
Balasar Ö; Başdemirci M
J Hum Genet; 2023 Dec; 68(12):797-804. PubMed ID: 37524782
[TBL] [Abstract][Full Text] [Related]
16. Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J; Craft J; Blair E; Wordsworth S; Beeson D; Chandratre S; Cossins J; Lester T; Németh AH; Ormondroyd E; Patel SY; Pagnamenta AT; Taylor JC; Thomson KL; Watkins H; Wilkie AOM; Knight JC
Genome Med; 2019 Jul; 11(1):46. PubMed ID: 31345272
[TBL] [Abstract][Full Text] [Related]
17. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.
Elliott AM
Cold Spring Harb Perspect Med; 2020 Mar; 10(3):. PubMed ID: 31501267
[TBL] [Abstract][Full Text] [Related]
18. Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.
Wynn J
J Genet Couns; 2016 Aug; 25(4):691-7. PubMed ID: 26242468
[TBL] [Abstract][Full Text] [Related]
19. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N; Hemelsoet D; Terryn W; Steyaert S; Van Coster R; Coucke PJ; Steyaert W; Callewaert B; Bogaert E; Verloo P; Vanlander AV; Debackere E; Ghijsels J; LeBlanc P; Verdin H; Naesens L; Haerynck F; Callens S; Dermaut B; Poppe B;
Orphanet J Rare Dis; 2022 May; 17(1):210. PubMed ID: 35606766
[TBL] [Abstract][Full Text] [Related]
20. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM
Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
