202 related articles for article (PubMed ID: 30103613)
1. 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]
2. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM; Lozano ML; Benito R; Janusz K; Palma-Barqueros V; Del Rey M; Hernández-Sánchez JM; Riesco S; Bermejo N; González-García H; Rodriguez-Alén A; Aguilar C; Sevivas T; López-Fernández MF; Marneth AE; van der Reijden BA; Morgan NV; Watson SP; Vicente V; Hernández-Rivas JM; Rivera J; González-Porras JR
Haematologica; 2018 Jan; 103(1):148-162. PubMed ID: 28983057
[TBL] [Abstract][Full Text] [Related]
3. Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia.
Leinøe E; Gabrielaite M; Østrup O; Funding E; Greinacher A; Ostrowski SR; Zetterberg E; Rossing M
Br J Haematol; 2019 Jul; 186(2):373-376. PubMed ID: 30908598
[No Abstract] [Full Text] [Related]
4. Diagnosis and treatment of
Rabbolini DJ; Chun Y; Latimer M; Kunishima S; Fixter K; Valecha B; Tan P; Chew LP; Kile BT; Burt R; Radhakrishnan K; Bird R; Ockelford P; Gabrielli S; Chen Q; Stevenson WS; Ward CM; Morel-Kopp MC
Platelets; 2018 Dec; 29(8):793-800. PubMed ID: 29090586
[No Abstract] [Full Text] [Related]
5. [Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X; Liu A; Yang H; Wei C; Ding J; Wang S; Wang J; Yuan Y; Jiang Y; Xiong H
Zhonghua Er Ke Za Zhi; 2015 Oct; 53(10):741-6. PubMed ID: 26758109
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R; Raslova H
Br J Haematol; 2015 Sep; 170(5):626-39. PubMed ID: 25944497
[TBL] [Abstract][Full Text] [Related]
8. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J; Stojkovic T; Boyer A; Martini N; Audic F; Chabrol B; Salort-Campana E; Delmont E; Desvignes JP; Verschueren A; Attarian S; Chaussenot A; Delague V; Levy N; Bonello-Palot N
BMJ Open; 2018 Oct; 8(10):e021632. PubMed ID: 30373780
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B; Lowe GC; Futterer J; Lordkipanidzé M; MacDonald D; Simpson MA; Sanchez-Guiú I; Drake S; Bem D; Leo V; Fletcher SJ; Dawood B; Rivera J; Allsup D; Biss T; Bolton-Maggs PH; Collins P; Curry N; Grimley C; James B; Makris M; Motwani J; Pavord S; Talks K; Thachil J; Wilde J; Williams M; Harrison P; Gissen P; Mundell S; Mumford A; Daly ME; Watson SP; Morgan NV;
Haematologica; 2016 Oct; 101(10):1170-1179. PubMed ID: 27479822
[TBL] [Abstract][Full Text] [Related]
10. Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y; Wei X; Kong X; Guo X; Sun Y; Man J; Du L; Zhu H; Qu Z; Tian P; Mao B; Yang Y
PLoS One; 2015; 10(8):e0133636. PubMed ID: 26274329
[TBL] [Abstract][Full Text] [Related]
11. Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P; Dupuis A; Py JY; Desprès A; Masson E; Le Marechal C; Cooper DN; Gachet C; Chen JM; Férec C
Transfusion; 2020 Oct; 60(10):2419-2431. PubMed ID: 32757236
[TBL] [Abstract][Full Text] [Related]
12. Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.
Zhang L; Yu J; Xian Y; Wen X; Guan X; Guo Y; Luo M; Dou Y
J Clin Lab Anal; 2021 Aug; 35(8):e23896. PubMed ID: 34237177
[TBL] [Abstract][Full Text] [Related]
13. Clinical validation of targeted next-generation sequencing for inherited disorders.
Yohe S; Hauge A; Bunjer K; Kemmer T; Bower M; Schomaker M; Onsongo G; Wilson J; Erdmann J; Zhou Y; Deshpande A; Spears MD; Beckman K; Silverstein KA; Thyagarajan B
Arch Pathol Lab Med; 2015 Feb; 139(2):204-10. PubMed ID: 25611102
[TBL] [Abstract][Full Text] [Related]
14. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM; Del Rey M; Lozano ML; Sarasquete ME; Benito R; Fontecha ME; Fisac R; García-Frade LJ; Aguilar C; Martínez MP; Pardal E; Aguilera C; Pérez B; Ramos R; Cardesa MR; Martin-Antorán JM; Silvestre LA; Cebeira MJ; Bermejo N; Riesco S; Mendoza MC; García-Sanz R; González-Díaz M; Hernández-Rivas JM; González-Porras JR
Haemophilia; 2016 Jul; 22(4):590-7. PubMed ID: 26879396
[TBL] [Abstract][Full Text] [Related]
15. Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.
Almazni I; Stapley R; Morgan NV
Front Cardiovasc Med; 2019; 6():80. PubMed ID: 31275945
[TBL] [Abstract][Full Text] [Related]
16. Application of next generation sequencing to molecular diagnosis of inherited diseases.
Zhang W; Cui H; Wong LJ
Top Curr Chem; 2014; 336():19-45. PubMed ID: 22576358
[TBL] [Abstract][Full Text] [Related]
17. Genomics of platelet disorders.
Westbury SK; Mumford AD
Haemophilia; 2016 Jul; 22 Suppl 5():20-4. PubMed ID: 27405671
[TBL] [Abstract][Full Text] [Related]
18. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
[TBL] [Abstract][Full Text] [Related]
19. Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN; Esposti SD; Mahroo OA; Arno G; Pontikos N; Wright G; Webster AR; Khan KN; Michaelides M
Mol Genet Genomic Med; 2021 Dec; 9(12):e1663. PubMed ID: 33749171
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]