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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: carey jc. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Prenatal diagnosis of distal arthrogryposis.
Baty BJ, Cubberley D, Morris C, Carey J. Baty BJ, et al. Am J Med Genet. 1988 Mar;29(3):501-10. doi: 10.1002/ajmg.1320290305. Am J Med Genet. 1988. PMID: 3287922 Review.
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.
Cunniff C, Curry CJ, Carey JC, Graham JM Jr, Williams CA, Stengel-Rutkowski S, Lüttgen S, Meinecke P. Cunniff C, et al. Among authors: carey jc. Am J Med Genet. 1993 Nov 15;47(7):1018-21. doi: 10.1002/ajmg.1320470716. Am J Med Genet. 1993. PMID: 8291515
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB. Bamshad M, et al. Among authors: carey jc. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424
Cytogenetic and molecular analysis in trisomy 12p.
Allen TL, Brothman AR, Carey JC, Chance PF. Allen TL, et al. Among authors: carey jc. Am J Med Genet. 1996 May 3;63(1):250-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8723118 Review.
Distal arthrogryposis type 1: clinical analysis of a large kindred.
Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Bamshad M, et al. Among authors: carey jc. Am J Med Genet. 1996 Nov 11;65(4):282-5. doi: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923936
409 results