Lee H - Search Results

1

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B. Chia PH, et al. Among authors: lee h. Elife. 2018 May 22;7:e32451. doi: 10.7554/eLife.32451. Elife. 2018. PMID: 29784083 Free PMC article.

2

A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF. Lee H, et al. Hum Mutat. 2004 Dec;24(6):536. doi: 10.1002/humu.9295. Hum Mutat. 2004. PMID: 15532032

3

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. Lee H, et al. Hum Mol Genet. 2006 Jan 15;15(2):251-8. doi: 10.1093/hmg/ddi441. Epub 2005 Dec 5. Hum Mol Genet. 2006. PMID: 16330481

4

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.

5

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Nikolova G, et al. Among authors: lee h. Hum Genet. 2007 Feb;120(6):847-56. doi: 10.1007/s00439-006-0267-1. Epub 2006 Oct 5. Hum Genet. 2007. PMID: 17021862

6

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. Kerber KA, et al. Among authors: lee h. Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749. Arch Neurol. 2007. PMID: 17502476

7

Association of progesterone receptor with migraine-associated vertigo.

Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. Lee H, et al. Neurogenetics. 2007 Aug;8(3):195-200. doi: 10.1007/s10048-007-0091-3. Epub 2007 Jul 3. Neurogenetics. 2007. PMID: 17609999

8

Phenotypic and genetic analysis of a large family with migraine-associated vertigo.

Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Lee H, et al. Headache. 2008 Nov-Dec;48(10):1460-7. doi: 10.1111/j.1526-4610.2007.01002.x. Epub 2007 Dec 11. Headache. 2008. PMID: 18081823 Free PMC article.

9

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: lee h. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921

10

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Lee H, et al. BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646. BMC Genomics. 2009. PMID: 20043857 Free PMC article.

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