Author details

Full Name

Pierre Lepage

Affiliation

ORCID

Career Start Year

1984

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34706766	A small number of early introductions seeded widespread transmission of SARS-CoV-2 in QuÃ©bec, Canada.	Genome Med	2021
34043590	Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.	J Clin Invest	2021
33398295	Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.	medRxiv	2020
30233528	Protists Within Corals: The Hidden Diversity.	Frontiers in Microbiology	2018
28100169	Medium throughput bisulfite sequencing for accurate detection of 5-methylcytosine and 5-hydroxymethylcytosine.	BMC Genomics	2017
29143652	Genetic profiles of ten Dirofilaria immitis isolates susceptible or resistant to macrocyclic lactone heartworm preventives.	Parasites and Vectors	2017
26378811	Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age.	Oncotarget	2015
24839956	Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.	Acta Neuropathol	2014
25351205	Variation in genomic landscape of clear cell renal cell carcinoma across Europe.	Nat Commun	2014
24262437	PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.	J Natl Cancer Inst	2014
24102521	Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.	Clin Genet	2014
23417712	Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.	Acta Neuropathol	2013
23319530	Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.	Pediatrics	2013
22661320	K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.	Acta Neuropathol	2012
22744673	Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.	Neurology	2012
22286061	Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.	Nature	2012
22321818	Periodic 48 h feed withdrawal improves glucose tolerance in growing pigs by enhancing adipogenesis and lipogenesis.	Nutrition and Metabolism	2012
22190362	Rare variants in the CYP27B1 gene are associated with multiple sclerosis.	Ann Neurol	2011
21279724	Mutations in Fanconi anemia genes and the risk of esophageal cancer.	Human Genetics	2011
21730200	A white spruce gene catalog for conifer genome analyses.	Plant Physiology	2011
18682749	Germline EPHB2 receptor variants in familial colorectal cancer.	PLoS One	2008
18190596	Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.	Clinical Genetics	2008
17420451	Analysis of PALB2/FANCN-associated breast cancer families.	Proc Natl Acad Sci U S A	2007
17033958	Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).	Am J Hum Genet	2006
16311595	Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.	Nat Genet	2006
16410054	Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.	Mol Genet Metab	2006
16754747	Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes.	FASEB Journal	2006
17003359	Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population.	Diabetes	2006
16281286	Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.	Hum Mutat	2006
16319321	Functional organization of a Schwann cell enhancer.	J Neurosci	2005
16251468	Survey of allelic expression using EST mining.	Genome Res	2005
16301213	Mapping common regulatory variants to human haplotypes.	Hum Mol Genet	2005
14737177	Susceptibility to leprosy is associated with PARK2 and PACRG.	Nature	2004
15523652	Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.	Hum Mutat	2004
14583597	A survey of genetic and epigenetic variation affecting human gene expression.	Physiol Genomics	2004
12626416	Glycosylation of human recombinant gonadotrophins: characterization and batch-to-batch consistency.	Glycobiology	2003
12529507	Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.	Proc Natl Acad Sci U S A	2003
14614079	A combinatorial network of evolutionarily conserved myelin basic protein regulatory sequences confers distinct glial-specific phenotypes.	J Neurosci	2003
11978666	5' flanking variants of resistin are associated with obesity.	Diabetes	2002
11356866	A distal upstream enhancer from the myelin basic protein gene regulates expression in myelin-forming schwann cells.	J Neurosci	2001
11685461	Haplotype mapping indicates two independent origins for the Cmv1s susceptibility allele to cytomegalovirus infection and refines its localization within the Ly49 cluster.	Immunogenetics	2001
10967134	Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on chromosome region 2q35.	Mamm Genome	2000
10828087	Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia.	J Lipid Res	2000
10655055	ARSACS, a spastic ataxia common in northeastern QuÃ©bec, is caused by mutations in a new gene encoding an 11.5-kb ORF.	Nat Genet	2000
9027502	High-resolution linkage map in the proximity of the host resistance locus Cmv1.	Genomics	1997
8718889	The contribution of lysine-36 to catalysis by human myo-inositol monophosphatase.	Biochemistry	1996
8871656	Natural resistance to intracellular infections: Nramp1 encodes a membrane phosphoglycoprotein absent in macrophages from susceptible (Nramp1 D169) mouse strains.	Journal of Immunology	1996
7618265	Activation of a MMTV/mdr3 fusion transcript from a cryptic viral promoter is stimulated by mdr-derived sequences located in intron I.	Virology	1995
7665187	Genomic structure, promoter sequence, and induction of expression of the mouse Nramp1 gene in macrophages.	Genomics	1995
7536017	P-glycoprotein homologues.	Cancer Treatment and Research	1994