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Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R; Undiagnosed Diseases Network; Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Diaz F, et al. Ann Clin Transl Neurol. 2020 Nov;7(11):2320-2325. doi: 10.1002/acn3.51209. Epub 2020 Oct 15. Ann Clin Transl Neurol. 2020. PMID: 33058507 Free PMC article.
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Arboleda VA, et al. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. Nat Genet. 2012. PMID: 22634751 Free PMC article.
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. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
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. 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.
Truncating mutations in APP cause a distinct neurological phenotype.
Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V; UCLA Clinical Genomics Center; Nelson SF, Martinez-Agosto JA. Klein S, et al. Ann Neurol. 2016 Sep;80(3):456-60. doi: 10.1002/ana.24727. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27422356 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
170 results