168 related articles for article (PubMed ID: 37327085)
1. Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H; Yu H; Zhang R; Peng D; Yan D; Gu Y; Bao Y; Jia W; Zhang H; Hu C
J Mol Cell Biol; 2023 Nov; 15(6):. PubMed ID: 37327085
[TBL] [Abstract][Full Text] [Related]
2. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
[TBL] [Abstract][Full Text] [Related]
3. Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.
Goksen D; Evin F; Isik E; Ozen S; Atik T; Ozkinay F; Akcan N; Ozkan B; Buyukinan M; Nuri Ozbek M; Darcan S; Onay H
Diabetes Res Clin Pract; 2023 Nov; 205():110953. PubMed ID: 37838154
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
5. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
Liu XZ; Li YY; Yang LP
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Mørup SB; Nazaryan-Petersen L; Gabrielaite M; Reekie J; Marquart HV; Hartling HJ; Marvig RL; Katzenstein TL; Masmas TN; Lundgren J; Murray DD; Helleberg M; Borgwardt L
Front Immunol; 2022; 13():906328. PubMed ID: 35874679
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.
Zhong M; Huang LN; Zhang SJ; Yan SJ
Niger J Clin Pract; 2022 Dec; 25(12):2077-2080. PubMed ID: 36537469
[TBL] [Abstract][Full Text] [Related]
10. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tan TY; Dillon OJ; Stark Z; Schofield D; Alam K; Shrestha R; Chong B; Phelan D; Brett GR; Creed E; Jarmolowicz A; Yap P; Walsh M; Downie L; Amor DJ; Savarirayan R; McGillivray G; Yeung A; Peters H; Robertson SJ; Robinson AJ; Macciocca I; Sadedin S; Bell K; Oshlack A; Georgeson P; Thorne N; Gaff C; White SM
JAMA Pediatr; 2017 Sep; 171(9):855-862. PubMed ID: 28759686
[TBL] [Abstract][Full Text] [Related]
11. Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.
Ronzoni L; Marini I; Passignani G; Malvestiti F; Marchelli D; Bianco C; Pelusi S; Prati D; Valenti L
Front Genet; 2023; 14():1137016. PubMed ID: 37388930
[No Abstract] [Full Text] [Related]
12. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A; Coutton C; Kherraf ZE; Karaouzène T; Le Tanno P; Sanati MH; Sabbaghian M; Almadani N; Sadighi Gilani MA; Hosseini SH; Bahrami S; Daneshipour A; Bini M; Arnoult C; Colombo R; Gourabi H; Ray PF
Hum Reprod; 2016 Dec; 31(12):2872-2880. PubMed ID: 27798045
[TBL] [Abstract][Full Text] [Related]
14. Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Cho A; Lima de Carvalho JR; Tanaka AJ; Jauregui R; Levi SR; Bassuk AG; Mahajan VB; Tsang SH
Orphanet J Rare Dis; 2020 Jan; 15(1):32. PubMed ID: 32000842
[TBL] [Abstract][Full Text] [Related]
15. Clinical whole exome sequencing in early onset diabetes patients.
Kwak SH; Jung CH; Ahn CH; Park J; Chae J; Jung HS; Cho YM; Lee DH; Kim JI; Park KS
Diabetes Res Clin Pract; 2016 Dec; 122():71-77. PubMed ID: 27810688
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB; Hsu JS; Chen PL; Wu JF; Li HY; Liou BY; Chang MH; Ni YH; Hwu WL; Chien YH; Chou YY; Yang YJ; Lee NC; Chen HL
J Pediatr; 2023 Jul; 258():113408. PubMed ID: 37019333
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir AH; Morley E; Sheikh J; Calder AD; Beleza-Meireles A; Cheung MS; Cocca A; Jansson M; Lillis S; Patel Y; Yau S; Hall CM; Offiah AC; Irving M
BMC Med Genomics; 2021 Jun; 14(1):148. PubMed ID: 34092239
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing combined with postoperative data identify c.1614dup (CAMKK2) as a novel candidate monogenic obesity variant.
Wang Y; Yang C; Wen J; Ju L; Ren Z; Zhang T; Liu Y
Front Endocrinol (Lausanne); 2024; 15():1334342. PubMed ID: 38469147
[TBL] [Abstract][Full Text] [Related]
20. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L; Sterbova K; Vlckova M; Seeman P; Zarubova J; Marusic P; Krsek P; Krijtova H; Musilova A; Lassuthova P
Eur J Paediatr Neurol; 2024 Jan; 48():17-29. PubMed ID: 38008000
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
