Lee H - Search Results

1

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE. Stiles AR, et al. Among authors: lee h. Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4. Mol Genet Metab. 2016. PMID: 27448789

2

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Lacombe A, et al. Among authors: lee h. Am J Hum Genet. 2006 Jul;79(1):113-9. doi: 10.1086/505406. Epub 2006 May 26. Am J Hum Genet. 2006. PMID: 16773570 Free PMC article.

3

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.

4

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. Lee H, et al. Hum Mol Genet. 2014 Jul 1;23(13):3481-9. doi: 10.1093/hmg/ddu056. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501278 Free PMC article.

5

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. Klein S, et al. Among authors: lee h. J Med Genet. 2014 May;51(5):294-302. doi: 10.1136/jmedgenet-2013-101943. Epub 2014 Mar 27. J Med Genet. 2014. PMID: 24676357 Free PMC article.

6

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.

7

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: lee h. 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.

8

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. Among authors: lee h. 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.

9

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N. Truscott L, et al. Among authors: lee h. Pediatr Blood Cancer. 2017 Jan;64(1):100-102. doi: 10.1002/pbc.26197. Epub 2016 Aug 31. Pediatr Blood Cancer. 2017. PMID: 27577987 Free PMC article.

10

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. Among authors: lee h. 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.

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