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Lili Li
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Analysis of PALB2/FANCN-associated breast cancer families
M Tischkowitz, B Xia, N Sabbaghian, JS Reis-Filho, N Hamel, G Li, ...
Proceedings of the National Academy of Sciences 104 (16), 6788-6793, 2007
2602007
Rare germline mutations in PALB2 and breast cancer risk: A population‐based study
M Tischkowitz, M Capanu, N Sabbaghian, L Li, X Liang, MP Vallée, ...
Human mutation 33 (4), 674-680, 2012
1082012
Distinct patterns of germ‐line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
L Li, S McVety, R Younan, P Liang, D Du Sart, PH Gordon, P Hutter, ...
Human mutation 27 (4), 388-388, 2006
622006
A potential oligogenic etiology of hypertrophic cardiomyopathy, a classic single gene disorder
L Li, MN Bainbridge, Y Tan, JT Willerson, AJ Marian
Circulation research, CIRCRESAHA. 116.310559, 2017
592017
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
L Li, N Hamel, K Baker, MJ McGuffin, M Couillard, A Gologan, VA Marcus, ...
Journal of medical genetics 52 (5), 348-352, 2015
422015
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family
S McVety, L Li, PH Gordon, G Chong, WD Foulkes
Journal of medical genetics 43 (2), 153-156, 2006
422006
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
402011
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c. 6853A> G (p. I2285V) variant
L Li, K Biswas, LA Habib, SG Kuznetsov, N Hamel, T Kirchhoff, N Wong, ...
Human mutation 30 (11), 1543-1550, 2009
402009
Transglutaminase in Plasmodium parasites: activity and putative role in oocysts and blood stages
A Adini, M Krugliak, H Ginsburg, L Li, L Lavie, A Warburg
Molecular and biochemical parasitology 117 (2), 161-168, 2001
342001
Cyclin D1/cdk4 can interact with E2F4/DP1 and disrupts its DNA‐binding capacity
A Scime, L Li, G Ciavarra, P Whyte
Journal of cellular physiology 214 (3), 568-581, 2008
282008
Human papillomavirus 18 E1^ E4 protein interacts with cyclin A/CDK 2 through an RXL motif
Q Ding, L Li, P Whyte
Molecular and cellular biochemistry 373 (1-2), 29-40, 2013
192013
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.
MAJ Bainbridge MN, Li L, Tan Y, Cheong BY
BMC Med Genet 18 (1), 24, 2017
12*2017
Novel genomic insertion–deletion in MLH1: possible mechanistic role for non‐homologous end‐joining DNA repair
S McVety, R Younan, L Li, PH Gordon, N Wong, WD Foulkes, G Chong
Clinical genetics 68 (3), 234-238, 2005
122005
The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone
S McVety, L Li, I Thiffault, PH Gordon, E MacNamara, N Wong, K Australie, ...
Familial cancer 5 (1), 21-28, 2006
102006
A Digenic Etiology Implicates Alpk3 and Myl2 Variants as Likely Causal Mutations in Familial Hypertrophic Cardiomyopathy
L Li, Y Tan, JT Willerson, AJ Marian
Circulation 134 (Suppl 1), A15640-A15640, 2016
2016
Quantitative Changes in Gene Expression Caused by Missense Variants in Deoxyribonucleic Acid Repair Genes
L Li
MCGILL UNIVERSITY, 2013
2013
Germline mutations on the PALB2 gene are more frequent in women with contralateral breast cancer
M Tischkowitz, M Capanu, N Sabbaghian, L Li, MP Vallee, S Tavtigian, ...
JOURNAL OF MEDICAL GENETICS 48, S103-S103, 2011
2011
Exploring the intrinsic functional gene dose of recessive mendelian mutations with a computational visualizing approach
L Li, MJ McGuffin, WD Foulkes
2011
Dual recognition of 5’splicing sites may have delayed tumor onset associated with a homozygous PMS2 splicing mutation present in the Inuit population of Quebec.
L Li, K Baker, T Ni, J Jarry, L Kasprzak, G Chong, J Jass, M Tischkowitz, ...
Cancer Research 68 (9 Supplement), 2208-2208, 2008
2008
Transglutaminase in Plasmodium Parasites
A Adini, H Ginsburg, M Krugliak, L Li, A Warburg
AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE 61, 114-114, 1999
1999
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