346 related articles for article (PubMed ID: 26380986)
1. Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
Polla DL; Cardoso MT; Silva MC; Cardoso IC; Medina CT; Araujo R; Fernandes CC; Reis AM; de Andrade RV; Pereira RW; Pogue R
PLoS One; 2015; 10(9):e0138314. PubMed ID: 26380986
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders.
Blue Cross and Blue Shield Association
Technol Eval Cent Assess Program Exec Summ; 2013 Aug; 28(3):1-4. PubMed ID: 24066368
[No Abstract] [Full Text] [Related]
4. 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]
5. Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Bartoli M; Desvignes JP; Nicolas L; Martin K
Muscle Nerve; 2014 Dec; 50(6):1007-10. PubMed ID: 25046369
[TBL] [Abstract][Full Text] [Related]
6. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
7. Next-generation sequencing for disorders of low and high bone mineral density.
Sule G; Campeau PM; Zhang VW; Nagamani SC; Dawson BC; Grover M; Bacino CA; Sutton VR; Brunetti-Pierri N; Lu JT; Lemire E; Gibbs RA; Cohn DH; Cui H; Wong LJ; Lee BH
Osteoporos Int; 2013 Aug; 24(8):2253-9. PubMed ID: 23443412
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.
Rafati M; Mohamadhashem F; Hoseini A; Hoseininasab F; Ghaffari SR
Eur J Med Genet; 2016 Jun; 59(6-7):330-6. PubMed ID: 27182040
[TBL] [Abstract][Full Text] [Related]
10. Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Bettencourt C; López-Sendón JL; García-Caldentey J; Rizzu P; Bakker IM; Shomroni O; Quintáns B; Dávila JR; Bevova MR; Sobrido MJ; Heutink P; de Yébenes JG
Clin Genet; 2014 Feb; 85(2):154-8. PubMed ID: 23438842
[TBL] [Abstract][Full Text] [Related]
12. Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y; Muzny DM; Reid JG; Bainbridge MN; Willis A; Ward PA; Braxton A; Beuten J; Xia F; Niu Z; Hardison M; Person R; Bekheirnia MR; Leduc MS; Kirby A; Pham P; Scull J; Wang M; Ding Y; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Eng CM
N Engl J Med; 2013 Oct; 369(16):1502-11. PubMed ID: 24088041
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T; Buxton C; Dennis G; Forrester N; Smith D; Lunt P; Burton-Jones S
BMC Med Genet; 2015 Sep; 16():84. PubMed ID: 26392352
[TBL] [Abstract][Full Text] [Related]
15. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B; Bulman DE; Warman Chardon J; Chitayat D; Deladoëy J; Fernandez BA; Frosk P; Geraghty MT; Gerull B; Gibson W; Gow RM; Graham GE; Green JS; Heon E; Horvath G; Innes AM; Jabado N; Kim RH; Koenekoop RK; Khan A; Lehmann OJ; Mendoza-Londono R; Michaud JL; Nikkel SM; Penney LS; Polychronakos C; Richer J; Rouleau GA; Samuels ME; Siu VM; Suchowersky O; Tarnopolsky MA; Yoon G; Zahir FR; ; ; Majewski J; Boycott KM
Clin Genet; 2016 Mar; 89(3):275-84. PubMed ID: 26283276
[TBL] [Abstract][Full Text] [Related]
16. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
Rabbani B; Mahdieh N; Hosomichi K; Nakaoka H; Inoue I
J Hum Genet; 2012 Oct; 57(10):621-32. PubMed ID: 22832387
[TBL] [Abstract][Full Text] [Related]
17. Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.
Powis Z; Farwell KD; Alamillo CL; Tang S
J Hum Genet; 2016 Feb; 61(2):173-5. PubMed ID: 26490185
[TBL] [Abstract][Full Text] [Related]
18. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
Song D; Li N; Liao L
Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949
[TBL] [Abstract][Full Text] [Related]
19. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
de Koning TJ; Jongbloed JD; Sikkema-Raddatz B; Sinke RJ
Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
[TBL] [Abstract][Full Text] [Related]
20. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
Walker RH; Schulz VP; Tikhonova IR; Mahajan MC; Mane S; Arroyo Muniz M; Gallagher PG
Mov Disord; 2012 Apr; 27(4):539-43. PubMed ID: 22038564
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]