|Germ-line DNA copy number variation frequencies in a large North American population|
G Zogopoulos, KCH Ha, F Naqib, S Moore, H Kim, A Montpetit, ...
Human genetics 122 (3-4), 345-353, 2007
|Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next‐generation exome sequencing|
E Lalonde, S Albrecht, KCH Ha, K Jacob, N Bolduc, C Polychronakos, ...
Human mutation 31 (8), 918-923, 2010
|RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression|
E Lalonde, KCH Ha, Z Wang, A Bemmo, CL Kleinman, T Kwan, ...
Genome research 21 (4), 545-554, 2011
|ARHGDIA: a novel gene implicated in nephrotic syndrome|
IR Gupta, C Baldwin, D Auguste, KCH Ha, J El Andalousi, S Fahiminiya, ...
Journal of medical genetics 50 (5), 330-338, 2013
|An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms|
J Tapial, KCH Ha, T Sterne-Weiler, A Gohr, U Braunschweig, ...
Genome research 27 (10), 1759-1768, 2017
|Comparative genomics of elastin: Sequence analysis of a highly repetitive protein|
D He, M Chung, E Chan, T Alleyne, KCH Ha, M Miao, RJ Stahl, ...
Matrix Biology 26 (7), 524-540, 2007
|Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome|
N Anastasio, T Ben-Omran, A Teebi, KCH Ha, E Lalonde, R Ali, ...
The American Journal of Human Genetics 87 (4), 553-559, 2010
|Multilayered control of alternative splicing regulatory networks by transcription factors|
H Han, U Braunschweig, T Gonatopoulos-Pournatzis, RJ Weatheritt, ...
Molecular cell 65 (3), 539-553. e7, 2017
|Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype|
A Alfares, LD Nunez, K Al-Thihli, J Mitchell, S Melanšon, N Anastasio, ...
Journal of medical genetics 48 (9), 602-605, 2011
|Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines|
KCH Ha, E Lalonde, L Li, L Cavallone, R Natrajan, MB Lambros, ...
BMC medical genomics 4 (1), 75, 2011
|Oncogenic activation of the RNA binding protein NELFE and MYC signaling in hepatocellular carcinoma|
H Dang, A Takai, M Forgues, Y Pomyen, H Mou, W Xue, D Ray, KCH Ha, ...
Cancer cell 32 (1), 101-114. e8, 2017
|QAPA: a new method for the systematic analysis of alternative polyadenylation from RNA-seq data|
KCH Ha, BJ Blencowe, Q Morris
Genome biology 19 (1), 45, 2018
|Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis|
SC Leary, H Antonicka, F Sasarman, W Weraarpachai, PA Cobine, M Pan, ...
Human mutation 34 (10), 1366-1370, 2013
|Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript isoform variation|
KCH Ha, J Coulombe-Huntington, J Majewski
BMC genomics 10 (1), 519, 2009
|RNAcompete-S: Combined RNA sequence/structure preferences for RNA binding proteins derived from a single-step in vitro selection|
KB Cook, S Vembu, KCH Ha, H Zheng, KU Laverty, TR Hughes, D Ray, ...
Methods 126, 18-28, 2017
|MECP2 is post-transcriptionally regulated during human neurodevelopment by combinatorial action of RNA-binding proteins and miRNAs|
DC Rodrigues, DS Kim, G Yang, K Zaslavsky, KCH Ha, RSF Mok, ...
Cell reports 17 (3), 720-734, 2016
|Efficient and accurate quantitative profiling of alternative splicing patterns of any complexity on a laptop|
T Sterne-Weiler, RJ Weatheritt, AJ Best, KCH Ha, BJ Blencowe
Molecular cell 72 (1), 187-200. e6, 2018
|RNAcompete methodology and application to determine sequence preferences of unconventional RNA-binding proteins|
D Ray, KCH Ha, K Nie, H Zheng, TR Hughes, QD Morris
Methods 118, 3-15, 2017
|Whippet: an efficient method for the detection and quantification of alternative splicing reveals extensive transcriptomic complexity|
T Sterne-Weiler, RJ Weatheritt, A Best, KCH Ha, BJ Blencowe
bioRxiv, 158519, 2017
|Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome|
DC Rodrigues, M Mufteev, RJ Weatheritt, U Djuric, KCH Ha, PJ Ross, ...