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6. De novo variants in CNOT3 cause a variable neurodevelopmental disorder. Martin R; Splitt M; Genevieve D; Aten E; Collins A; de Bie CI; Faivre L; Foulds N; Giltay J; Ibitoye R; Joss S; Kennedy J; Kerr B; Kivuva E; Koopmans M; Newbury-Ecob R; Jean-Marçais N; Peeters EAJ; Smithson S; Tomkins S; Tranmauthem F; Piton A; van Haeringen A Eur J Hum Genet; 2019 Nov; 27(11):1677-1682. PubMed ID: 31201375 [TBL] [Abstract][Full Text] [Related]
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9. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Tan TY; Gonzaga-Jauregui C; Bhoj EJ; Strauss KA; Brigatti K; Puffenberger E; Li D; Xie L; Das N; Skubas I; Deckelbaum RA; Hughes V; Brydges S; Hatsell S; Siao CJ; Dominguez MG; Economides A; Overton JD; Mayne V; Simm PJ; Jones BO; Eggers S; Le Guyader G; Pelluard F; Haack TB; Sturm M; Riess A; Waldmueller S; Hofbeck M; Steindl K; Joset P; Rauch A; Hakonarson H; Baker NL; Farlie PG Am J Hum Genet; 2017 Dec; 101(6):985-994. PubMed ID: 29198724 [TBL] [Abstract][Full Text] [Related]
10. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Tran Mau-Them F; Moutton S; Racine C; Vitobello A; Bruel AL; Nambot S; Kushner SA; de Vrij FMS; Lehalle D; Jean-Marçais N; Lecoquierre F; Delanne J; Thevenon J; Poe C; Jouan T; Chevarin M; Geneviève D; Willems M; Coubes C; Houcinat N; Masurel-Paulet A; Mosca-Boidron AL; Tisserant E; Callier P; Sorlin A; Duffourd Y; Faivre L; Philippe C; Thauvin-Robinet C Hum Genet; 2020 Nov; 139(11):1381-1390. PubMed ID: 32399599 [TBL] [Abstract][Full Text] [Related]
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12. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders. Gardner EJ; Sifrim A; Lindsay SJ; Prigmore E; Rajan D; Danecek P; Gallone G; Eberhardt RY; Martin HC; Wright CF; FitzPatrick DR; Firth HV; Hurles ME Am J Hum Genet; 2021 Nov; 108(11):2186-2194. PubMed ID: 34626536 [TBL] [Abstract][Full Text] [Related]
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14. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Pinard A; Guey S; Guo D; Cecchi AC; Kharas N; Wallace S; Regalado ES; Hostetler EM; Sharrief AZ; Bergametti F; Kossorotoff M; Hervé D; Kraemer M; Bamshad MJ; Nickerson DA; Smith ER; Tournier-Lasserve E; Milewicz DM Genet Med; 2020 Feb; 22(2):427-431. PubMed ID: 31474762 [TBL] [Abstract][Full Text] [Related]
15. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. Ropers HH; Wienker T Eur J Med Genet; 2015 Dec; 58(12):715-8. PubMed ID: 26506440 [TBL] [Abstract][Full Text] [Related]
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19. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Watkins WS; Hernandez EJ; Wesolowski S; Bisgrove BW; Sunderland RT; Lin E; Lemmon G; Demarest BL; Miller TA; Bernstein D; Brueckner M; Chung WK; Gelb BD; Goldmuntz E; Newburger JW; Seidman CE; Shen Y; Yost HJ; Yandell M; Tristani-Firouzi M Nat Commun; 2019 Oct; 10(1):4722. PubMed ID: 31624253 [TBL] [Abstract][Full Text] [Related]
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