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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: lee h. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Lee H, et al. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464252 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. Among authors: lee h. 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.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: lee h. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.
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