159 related articles for article (PubMed ID: 37951644)
1. 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]
2. 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]
3. 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]
4. Undiagnosed and Rare Diseases in Critical Care: The Role of Diagnostic Access.
Bordini BJ
Crit Care Clin; 2022 Apr; 38(2):159-171. PubMed ID: 35369940
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Nazeha N; Koh AL; Kam S; Lim JY; Goh DLM; Jamuar SS; Graves N
Am J Med Genet A; 2022 Dec; 188(12):3482-3491. PubMed ID: 36156406
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 27894438
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H; Huang AY; Wang LK; Yoon AJ; Renteria G; Eskin A; Signer RH; Dorrani N; Nieves-Rodriguez S; Wan J; Douine ED; Woods JD; Dell'Angelica EC; Fogel BL; Martin MG; Butte MJ; Parker NH; Wang RT; Shieh PB; Wong DA; Gallant N; Singh KE; Tavyev Asher YJ; Sinsheimer JS; Krakow D; Loo SK; Allard P; Papp JC; ; Palmer CGS; Martinez-Agosto JA; Nelson SF
Genet Med; 2020 Mar; 22(3):490-499. PubMed ID: 31607746
[TBL] [Abstract][Full Text] [Related]
10. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Cohen ASA; Berrios CD; Zion TN; Barrett CM; Moore R; Boillat E; Belden B; Farrow EG; Thiffault I; Zuccarelli BD; Pastinen T
Am J Hum Genet; 2024 May; 111(5):825-832. PubMed ID: 38636509
[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. 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(1):77. PubMed ID: 27287197
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Exome/Genome Sequencing in Undiagnosed Syndromes.
Sullivan JA; Schoch K; Spillmann RC; Shashi V
Annu Rev Med; 2023 Jan; 74():489-502. PubMed ID: 36706750
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
FĂ©lix TM; Fischinger Moura de Souza C; Oliveira JB; Rico-Restrepo M; Zanoteli E; Zatz M; Giugliani R
Int J Equity Health; 2023 Jan; 22(1):11. PubMed ID: 36639662
[TBL] [Abstract][Full Text] [Related]
18. The genomic landscape of rare disorders in the Middle East.
El Naofal M; Ramaswamy S; Alsarhan A; Nugud A; Sarfraz F; Janbaz H; Taylor A; Jain R; Halabi N; Yaslam S; Alfalasi R; Shenbagam S; Rabea F; Bitzan M; Yavuz L; Wafadari D; Abulhoul H; Shankar S; Al Maazmi M; Rizk R; Alloub Z; Elbashir H; Babiker MOE; Chencheri N; AlBanna A; Sultan M; El Bitar M; Kherani S; Thalange N; Alshryda S; Di Donato R; Tzivinikos C; Majid I; Freeman AF; Gonzalez C; Khan AO; Hamdan H; Abuhammour W; AlAwadhi M; AlKhayat A; Alsheikh-Ali A; Abou Tayoun AN
Genome Med; 2023 Jan; 15(1):5. PubMed ID: 36703223
[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. Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.
Adachi T; Kawamura K; Furusawa Y; Nishizaki Y; Imanishi N; Umehara S; Izumi K; Suematsu M
Eur J Hum Genet; 2017 Sep; 25(9):1025-1028. PubMed ID: 28794428
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]