Lee H - Search Results

1

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Among authors: lee h. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 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

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.

10

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. Clark MJ, et al. Among authors: lee h. PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832. PLoS Genet. 2010. PMID: 20126413 Free PMC article.

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