455 related articles for article (PubMed ID: 32888943)
41. 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]
42. A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M; Bravo-Gil N; González-Del Pozo M; Méndez-Vidal C; Fernández-Suárez E; Rodríguez-de la Rúa E; Borrego S; Antiñolo G
Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33302505
[TBL] [Abstract][Full Text] [Related]
43. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS; August D; Abt R; Alddafari M; Atarod L; Baris S; Bhavsar H; Brinkert F; Buchta M; Bulashevska A; Chee R; Cordeiro AI; Dara N; Dückers G; Elmarsafy A; Frede N; Galal N; Gerner P; Glocker EO; Goldacker S; Hammermann J; Hasselblatt P; Havlicekova Z; Hübscher K; Jesenak M; Karaca NE; Karakoc-Aydiner E; Kharaghani MM; Kilic SS; Kiykim A; Klein C; Klemann C; Kobbe R; Kotlarz D; Laass MW; Leahy TR; Mesdaghi M; Mitton S; Neves JF; Öztürk B; Pereira LF; Rohr J; Restrepo JLR; Ruzaike G; Saleh N; Seneviratne S; Senol E; Speckmann C; Tegtmeyer D; Thankam P; van der Werff Ten Bosch J; von Bernuth H; Zeissig S; Zeissig Y; Franke A; Grimbacher B
Inflamm Bowel Dis; 2017 Dec; 23(12):2109-2120. PubMed ID: 28930861
[TBL] [Abstract][Full Text] [Related]
44. Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E; Mirbeyk M; Pezeshki PS; Mohammadpour M; Yaghmaie B; Hassani SA; Sharifzadeh M; Tahernia L; Rezaei N
Pediatr Allergy Immunol; 2023 Dec; 34(12):e14066. PubMed ID: 38146112
[TBL] [Abstract][Full Text] [Related]
45. Whole exome sequencing of suspected mitochondrial patients in clinical practice.
Wortmann SB; Koolen DA; Smeitink JA; van den Heuvel L; Rodenburg RJ
J Inherit Metab Dis; 2015 May; 38(3):437-43. PubMed ID: 25735936
[TBL] [Abstract][Full Text] [Related]
46. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Waldrop MA; Pastore M; Schrader R; Sites E; Bartholomew D; Tsao CY; Flanigan KM
Neuropediatrics; 2019 Apr; 50(2):96-102. PubMed ID: 30665247
[TBL] [Abstract][Full Text] [Related]
47. New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
Xu Y; Wang Y; Li N; Yao R; Li G; Li J; Ding Y; Chen Y; Huang X; Chen Y; Qing Y; Yu T; Shen Y; Wang X; Shen Y; Wang J
Eur J Endocrinol; 2019 Sep; 181(3):311-323. PubMed ID: 31277073
[TBL] [Abstract][Full Text] [Related]
48. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
49. WEScover: selection between clinical whole exome sequencing and gene panel testing.
Lee IH; Lin Y; Alvarez WJ; Hernandez-Ferrer C; Mandl KD; Kong SW
BMC Bioinformatics; 2021 May; 22(1):259. PubMed ID: 34016036
[TBL] [Abstract][Full Text] [Related]
50. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E; Topf A; Barresi R; Hudson J; Powell H; Tellez J; Hicks D; Porter A; Bertoli M; Evangelista T; Marini-Betollo C; Magnússon Ó; Lek M; MacArthur D; Bushby K; Lochmüller H; Straub V
Orphanet J Rare Dis; 2017 Sep; 12(1):151. PubMed ID: 28877744
[TBL] [Abstract][Full Text] [Related]
51. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK
Mol Genet Genomic Med; 2018 Mar; 6(2):186-199. PubMed ID: 29314763
[TBL] [Abstract][Full Text] [Related]
52. Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.
Bucciol G; Van Nieuwenhove E; Moens L; Itan Y; Meyts I
Curr Opin Allergy Clin Immunol; 2017 Dec; 17(6):421-430. PubMed ID: 28938278
[TBL] [Abstract][Full Text] [Related]
53. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca P; Scheffer IE; Harvey AS; James PA; Lunke S; Thorne N; Gaff C; Regan BM; Damiano JA; Hildebrand MS; Berkovic SF; O'Brien TJ; Kwan P
Epilepsy Res; 2017 Mar; 131():1-8. PubMed ID: 28199897
[TBL] [Abstract][Full Text] [Related]
54. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Saudi Mendeliome Group
Genome Biol; 2015 Jun; 16(1):134. PubMed ID: 26112015
[TBL] [Abstract][Full Text] [Related]
55. Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Cai Y; Patterson KE; Reinier F; Keesecker SE; Blue E; Bamshad M; Haddad J
Birth Defects Res; 2017 Oct; 109(16):1257-1267. PubMed ID: 28748635
[TBL] [Abstract][Full Text] [Related]
56. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M; Chaussenot A; Rouzier C; Ait-El-Mkadem S; Fragaki K; Paquis-Flucklinger V; Bannwarth S
BMC Med Genet; 2018 Apr; 19(1):57. PubMed ID: 29625556
[TBL] [Abstract][Full Text] [Related]
57. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J; Oh HM; Park HJ; Cho AR; Lee DW; Jang JH; Jang DH
Mol Genet Genomic Med; 2019 Oct; 7(10):e00947. PubMed ID: 31475473
[TBL] [Abstract][Full Text] [Related]
58. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in
Robyns T; Willems R; Van Cleemput J; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Breckpot J; Devriendt K; Corveleyn A
Acta Cardiol; 2020 Dec; 75(8):748-753. PubMed ID: 31583969
[No Abstract] [Full Text] [Related]
59. 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. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
60. Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn PJ; Maksemous N; Smith RA; Sutherland HG; Haupt LM; Griffiths LR
Hum Genomics; 2020 Jan; 14(1):2. PubMed ID: 31915071
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
