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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Among authors: fox m. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Mullegama SV, et al. Among authors: fox m. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.146. Epub 2017 Sep 21. Genet Med. 2017. PMID: 28933790 Free article. No abstract available.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: fox m. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
Deaf genetic testing and psychological well-being in deaf adults.
Palmer CG, Boudreault P, Baldwin EE, Fox M, Deignan JL, Kobayashi Y, Sininger Y, Grody W, Sinsheimer JS. Palmer CG, et al. Among authors: fox m. J Genet Couns. 2013 Aug;22(4):492-507. doi: 10.1007/s10897-013-9573-7. Epub 2013 Feb 21. J Genet Couns. 2013. PMID: 23430402 Free PMC article.
Infant hearing loss and connexin testing in a diverse population.
Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, Warman B, McCarra M, Crandall B, Sininger Y, Grody WW, Palmer CG. Schimmenti LA, et al. Among authors: fox m. Genet Med. 2008 Jul;10(7):517-24. doi: 10.1097/gim.0b013e31817708fa. Genet Med. 2008. PMID: 18580690
Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study.
Boudreault P, Baldwin EE, Fox M, Dutton L, Tullis L, Linden J, Kobayashi Y, Zhou J, Sinsheimer JS, Sininger Y, Grody WW, Palmer CG. Boudreault P, et al. Among authors: fox m. J Deaf Stud Deaf Educ. 2010 Summer;15(3):209-27. doi: 10.1093/deafed/enq012. Epub 2010 May 20. J Deaf Stud Deaf Educ. 2010. PMID: 20488870 Free PMC article.
3,388 results