Ha KC - Search Results

1

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: ha kc. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

2

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: ha kc. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

3

ARHGDIA: a novel gene implicated in nephrotic syndrome.

Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. Gupta IR, et al. Among authors: ha kc. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22. J Med Genet. 2013. PMID: 23434736 Free PMC article.

4

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. Lalonde E, et al. Among authors: ha kc. Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293. Hum Mutat. 2010. PMID: 20518025

5

Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript isoform variation.

Ha KCh, Coulombe-Huntington J, Majewski J. Ha KCh, et al. BMC Genomics. 2009 Nov 12;10:519. doi: 10.1186/1471-2164-10-519. BMC Genomics. 2009. PMID: 19909511 Free PMC article.

6

RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.

Lalonde E, Ha KC, Wang Z, Bemmo A, Kleinman CL, Kwan T, Pastinen T, Majewski J. Lalonde E, et al. Among authors: ha kc. Genome Res. 2011 Apr;21(4):545-54. doi: 10.1101/gr.111211.110. Epub 2010 Dec 20. Genome Res. 2011. PMID: 21173033 Free PMC article.

7

Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines.

Ha KC, Lalonde E, Li L, Cavallone L, Natrajan R, Lambros MB, Mitsopoulos C, Hakas J, Kozarewa I, Fenwick K, Lord CJ, Ashworth A, Vincent-Salomon A, Basik M, Reis-Filho JS, Majewski J, Foulkes WD. Ha KC, et al. BMC Med Genomics. 2011 Oct 27;4:75. doi: 10.1186/1755-8794-4-75. BMC Med Genomics. 2011. PMID: 22032724 Free PMC article.

8

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Leary SC, et al. Among authors: ha kc. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101

9

RNAcompete-S: Combined RNA sequence/structure preferences for RNA binding proteins derived from a single-step in vitro selection.

Cook KB, Vembu S, Ha KCH, Zheng H, Laverty KU, Hughes TR, Ray D, Morris QD. Cook KB, et al. Methods. 2017 Aug 15;126:18-28. doi: 10.1016/j.ymeth.2017.06.024. Epub 2017 Jun 24. Methods. 2017. PMID: 28651966

10

Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome.

Rodrigues DC, Mufteev M, Weatheritt RJ, Djuric U, Ha KCH, Ross PJ, Wei W, Piekna A, Sartori MA, Byres L, Mok RSF, Zaslavsky K, Pasceri P, Diamandis P, Morris Q, Blencowe BJ, Ellis J. Rodrigues DC, et al. Cell Rep. 2020 Mar 24;30(12):4179-4196.e11. doi: 10.1016/j.celrep.2020.02.107. Cell Rep. 2020. PMID: 32209477 Free article.

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