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7. Exome sequencing identifies three novel candidate genes implicated in intellectual disability. Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613 [TBL] [Abstract][Full Text] [Related]
8. Exome sequencing in suspected monogenic dyslipidemias. Stitziel NO; Peloso GM; Abifadel M; Cefalu AB; Fouchier S; Motazacker MM; Tada H; Larach DB; Awan Z; Haller JF; Pullinger CR; Varret M; Rabès JP; Noto D; Tarugi P; Kawashiri MA; Nohara A; Yamagishi M; Risman M; Deo R; Ruel I; Shendure J; Nickerson DA; Wilson JG; Rich SS; Gupta N; Farlow DN; Neale BM; Daly MJ; Kane JP; Freeman MW; Genest J; Rader DJ; Mabuchi H; Kastelein JJ; Hovingh GK; Averna MR; Gabriel S; Boileau C; Kathiresan S Circ Cardiovasc Genet; 2015 Apr; 8(2):343-50. PubMed ID: 25632026 [TBL] [Abstract][Full Text] [Related]
9. Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. Timms AE; Dorschner MO; Wechsler J; Choi KY; Kirkwood R; Girirajan S; Baker C; Eichler EE; Korvatska O; Roche KW; Horwitz MS; Tsuang DW JAMA Psychiatry; 2013 Jun; 70(6):582-90. PubMed ID: 23553203 [TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Braun DA; Schueler M; Halbritter J; Gee HY; Porath JD; Lawson JA; Airik R; Shril S; Allen SJ; Stein D; Al Kindy A; Beck BB; Cengiz N; Moorani KN; Ozaltin F; Hashmi S; Sayer JA; Bockenhauer D; Soliman NA; Otto EA; Lifton RP; Hildebrandt F Kidney Int; 2016 Feb; 89(2):468-475. PubMed ID: 26489029 [TBL] [Abstract][Full Text] [Related]
11. Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract. Mackay DS; Bennett TM; Culican SM; Shiels A Hum Genomics; 2014 Nov; 8(1):19. PubMed ID: 25403472 [TBL] [Abstract][Full Text] [Related]
12. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death. Zaragoza MV; Fung L; Jensen E; Oh F; Cung K; McCarthy LA; Tran CK; Hoang V; Hakim SA; Grosberg A PLoS One; 2016; 11(5):e0155421. PubMed ID: 27182706 [TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Cappi C; Brentani H; Lima L; Sanders SJ; Zai G; Diniz BJ; Reis VN; Hounie AG; Conceição do Rosário M; Mariani D; Requena GL; Puga R; Souza-Duran FL; Shavitt RG; Pauls DL; Miguel EC; Fernandez TV Transl Psychiatry; 2016 Mar; 6(3):e764. PubMed ID: 27023170 [TBL] [Abstract][Full Text] [Related]
14. Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns. Cifola I; Lionetti M; Pinatel E; Todoerti K; Mangano E; Pietrelli A; Fabris S; Mosca L; Simeon V; Petrucci MT; Morabito F; Offidani M; Di Raimondo F; Falcone A; Caravita T; Battaglia C; De Bellis G; Palumbo A; Musto P; Neri A Oncotarget; 2015 Jul; 6(19):17543-58. PubMed ID: 26046463 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent. Powis Z; Espenschied CR; LaDuca H; Hagman KD; Paudyal T; Li S; Inaba H; Mauer A; Nathanson KL; Knost J; Chao EC; Tang S Cancer Genet; 2018 Aug; 224-225():12-20. PubMed ID: 29778231 [TBL] [Abstract][Full Text] [Related]
17. Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing. Heo WI; Park KY; Jin T; Lee MK; Kim M; Choi EH; Kim HS; Bae JM; Moon NJ; Seo SJ BMC Med Genet; 2017 Jan; 18(1):8. PubMed ID: 28125976 [TBL] [Abstract][Full Text] [Related]
18. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. Liu S; Xie L; Yue J; Ma T; Peng C; Qiu B; Yang Z; Yang J Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927 [TBL] [Abstract][Full Text] [Related]
19. Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma. Melo FM; Couto PP; Bale AE; Bastos-Rodrigues L; Passos FM; Lisboa RG; Ng JM; Curran T; Dias EP; Friedman E; De Marco L Cancer Genet; 2016 Jun; 209(6):251-7. PubMed ID: 27245436 [TBL] [Abstract][Full Text] [Related]
20. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Oliver VF; van Bysterveldt KA; Cadzow M; Steger B; Romano V; Markie D; Hewitt AW; Mackey DA; Willoughby CE; Sherwin T; Crosier PS; McGhee CN; Vincent AL Ophthalmology; 2016 Apr; 123(4):709-22. PubMed ID: 26786512 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]