212 related articles for article (PubMed ID: 33275718)
21. Clinical Interpretation of Sequence Variants.
Zhang J; Yao Y; He H; Shen J
Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
[TBL] [Abstract][Full Text] [Related]
22. Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Gaut JP; Jain S; Pfeifer JD; Vigh-Conrad KA; Corliss M; Sharma MK; Heusel JW; Cottrell CE
Mod Pathol; 2017 Dec; 30(12):1739-1747. PubMed ID: 28752844
[TBL] [Abstract][Full Text] [Related]
23. Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.
Wang Q; Cao L; Sheng G; Shen H; Ling J; Xie J; Ma Z; Yin J; Wang Z; Yu Z; Chen S; Zhao Y; Ruan C; Xia L; Jiang M
Clin Appl Thromb Hemost; 2018 Dec; 24(9_suppl):94S-103S. PubMed ID: 30103613
[TBL] [Abstract][Full Text] [Related]
24. How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for
Wu D; Luo X; Feurstein S; Kesserwan C; Mohan S; Pineda-Alvarez DE; Godley LA;
Haematologica; 2020 Apr; 105(4):870-887. PubMed ID: 32165484
[TBL] [Abstract][Full Text] [Related]
25. State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders.
Gebetsberger J; Mott K; Bernar A; Klopocki E; Streif W; Schulze H
Hamostaseologie; 2023 Aug; 43(4):244-251. PubMed ID: 37611606
[TBL] [Abstract][Full Text] [Related]
26. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
[TBL] [Abstract][Full Text] [Related]
27. Inherited disorders of platelet function: selected updates.
Nurden AT; Nurden P
J Thromb Haemost; 2015 Jun; 13 Suppl 1():S2-9. PubMed ID: 26149024
[TBL] [Abstract][Full Text] [Related]
28. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Chen E; Facio FM; Aradhya KW; Rojahn S; Hatchell KE; Aguilar S; Ouyang K; Saitta S; Hanson-Kwan AK; Capurro NN; Takamine E; Jamuar SS; McKnight D; Johnson B; Aradhya S
JAMA Netw Open; 2023 Oct; 6(10):e2339571. PubMed ID: 37878314
[TBL] [Abstract][Full Text] [Related]
29. A diagnostic approach to mild bleeding disorders.
Boender J; Kruip MJ; Leebeek FW
J Thromb Haemost; 2016 Aug; 14(8):1507-16. PubMed ID: 27208505
[TBL] [Abstract][Full Text] [Related]
30. The current and future impact of genome-wide sequencing on fetal precision medicine.
Sabbagh R; Van den Veyver IB
Hum Genet; 2020 Sep; 139(9):1121-1130. PubMed ID: 31754893
[TBL] [Abstract][Full Text] [Related]
31. Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE; Sulovari A; Wang T; Loucks H; Hoekzema K; Munson KM; Lewis AP; Fuerte EPA; Paschal CR; Walsh T; Thies J; Bennett JT; Glass I; Dipple KM; Patterson K; Bonkowski ES; Nelson Z; Squire A; Sikes M; Beckman E; Bennett RL; Earl D; Lee W; Allikmets R; Perlman SJ; Chow P; Hing AV; Wenger TL; Adam MP; Sun A; Lam C; Chang I; Zou X; Austin SL; Huggins E; Safi A; Iyengar AK; Reddy TE; Majoros WH; Allen AS; Crawford GE; Kishnani PS; ; King MC; Cherry T; Chong JX; Bamshad MJ; Nickerson DA; Mefford HC; Doherty D; Eichler EE
Am J Hum Genet; 2021 Aug; 108(8):1436-1449. PubMed ID: 34216551
[TBL] [Abstract][Full Text] [Related]
32. Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience.
Perez Botero J; Warad DM; He R; Uhl CB; Tian S; Otteson GE; Barness RL; Olson MC; Gossman SC; Charlesworth JE; Nichols WL; Pruthi RK; Chen D
Am J Clin Pathol; 2017 Jul; 148(1):23-32. PubMed ID: 28575217
[TBL] [Abstract][Full Text] [Related]
33. [Application of Next Generation Sequencing in Genetic Diagnosis of Hereditary Platelet Disorders - Review].
Shi HP; Wang ZY
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2018 Feb; 26(1):278-282. PubMed ID: 29397858
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
36. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.
Abou Tayoun AN; Krock B; Spinner NB
Expert Rev Mol Diagn; 2016 Sep; 16(9):987-99. PubMed ID: 27388938
[TBL] [Abstract][Full Text] [Related]
37. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA; Caleshu C; Morales A; Buchan J; Wolf Z; Harrison SM; Cook S; Dillon MW; Garcia J; Haverfield E; Jongbloed JDH; Macaya D; Manrai A; Orland K; Richard G; Spoonamore K; Thomas M; Thomson K; Vincent LM; Walsh R; Watkins H; Whiffin N; Ingles J; van Tintelen JP; Semsarian C; Ware JS; Hershberger R; Funke B
Genet Med; 2018 Mar; 20(3):351-359. PubMed ID: 29300372
[TBL] [Abstract][Full Text] [Related]
38. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema IFAC; van der Velde KJ; Slofstra MK; Ruivenkamp CAL; Vogel MJ; Pfundt R; Blok MJ; Lekanne Deprez RH; Waisfisz Q; Abbott KM; Sinke RJ; Rahman R; Nijman IJ; de Koning B; Thijs G; Wieskamp N; Moritz RJG; Charbon B; Saris JJ; den Dunnen JT; Laros JFJ; Swertz MA; van Gijn ME
Hum Mutat; 2019 Dec; 40(12):2230-2238. PubMed ID: 31433103
[TBL] [Abstract][Full Text] [Related]
39. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W; Eng C; Funke B; Hegde M; Hershberger RE; Mao R; Steiner RD; Vincent LM; Martin CL; Plon SE; Ramos E; Rehm HL; Watson M; Berg JS
Hum Mutat; 2018 Nov; 39(11):1614-1622. PubMed ID: 30311389
[TBL] [Abstract][Full Text] [Related]
40. Evaluating ClinGen variant curation expert panels' application of PVS1 code.
Wang X; Li H; Luo H; Zou Y; Li H; Qin Y; Song J
Eur J Med Genet; 2024 Feb; 67():104909. PubMed ID: 38199457
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
