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Ronald G. Lafrenière

Observed names: Lafrenière, Ronald G., R G Lafreniere, R G Lafrenière, R Lafrenière, R. G. Lafreniere, R. Lafreniere, R.G. Lafreniere, R.G. Lafrenière, Ronald G Lafrenière, Ronald G. Lafreniere, Ronald G. Lafreniére, Ronald G. Lafrenière
Observed institutions: Montreal Neurological Institute and Hospital, Roswell Park Comprehensive Cancer Center, University of Toronto, Montreal General Hospital, Hôpital Notre-Dame, Stanford Medicine, Centre Hospitalier de l’Université de Montréal, Research Institute of the McGill University Health Centre, CHU Sainte-Justine Research Center, McGill University, Case Western Reserve University, Concordia University, Université de Montréal, Stanford University
OpenAlex ID: A5076268656
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
1991 · Carolyn J. Brown, Andrea Ballabio, et al. · Nature · 1,532
The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
1992 · Carolyn J. Brown, Brian D. Hendrich, et al. · Cell · 1,298
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
2017 · Fadi F. Hamdan, Candace T. Myers, et al. · The American Journal of Human Genetics · 443
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Localization of the X inactivation centre on the human X chromosome in Xq13
1991 · Carolyn J. Brown, Ronald G. Lafreniere, et al. · Nature · 387
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
2010 · Ronald G Lafrenière, M Zameel Cader, et al. · Nature Medicine · 376
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
2010 · Julie Gauthier, Nathalie Champagne, et al. · Proceedings of the National Academy of Sciences · 369
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
2011 · Fadi F. Hamdan, Julie Gauthier, et al. · The American Journal of Human Genetics · 348
Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
2009 · Fadi F. Hamdan, Julie Gauthier, et al. · New England Journal of Medicine · 329
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Novel de novo SHANK3 mutation in autistic patients
2008 · Julie Gauthier, Dan Spiegelman, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 319
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
2010 · A Piton, J Gauthier, et al. · Molecular Psychiatry · 312
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
2011 · Julie Gauthier, Tabrez J. Siddiqui, et al. · Human Genetics · 283
Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
2010 · Philip Awadalla, Julie Gauthier, et al. · The American Journal of Human Genetics · 235
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De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
2010 · Fadi F. Hamdan, Hussein Daoud, et al. · The American Journal of Human Genetics · 233
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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
2011 · J Tarabeux, O Kebir, et al. · Translational Psychiatry · 230
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Mutations in the calcium-related gene IL1RAPL1 are associated with autism
2008 · A. Piton, J. L. Michaud, et al. · Human Molecular Genetics · 192
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
1997 · Ronald G. Lafreniére, Daniel L. Rochefort, et al. · Nature Genetics · 174
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates
2004 · Ronald G. Lafrenière, Marcia L.E. MacDonald, et al. · The American Journal of Human Genetics · 155
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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
2009 · Fadi F. Hamdan, Amélie Piton, et al. · Annals of Neurology · 145
Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
2008 · Masoud Shekarabi, Nathalie Girard, et al. · Journal of Clinical Investigation · 122
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A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
1994 · Ronald G. Lafrenière, Laura Carrel, et al. · Human Molecular Genetics · 109
Functional analysis of missense variants in the TRESK (KCNK18) K+ channel
2012 · Isabelle Andres-Enguix, Lijun Shang, et al. · Scientific Reports · 104
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A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing
2011 · Rachel A. Myers, Ferran Casals, et al. · PLoS Genetics · 96
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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
2009 · Lan Xiong, Hélène Catoire, et al. · Human Molecular Genetics · 93
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Mechanisms of uptake and resistance to troxacitabine, a novel deoxycytidine nucleoside analogue, in human leukemic and solid tumor cell lines.
2001 · H Gourdeau, M L Clarke, et al. · PubMed · 80
Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A
1990 · Robert A. Norum, Ronald G. Lafreniere, et al. · Genomics · 80
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Works count: 63
Citation count: 8,782
H-index: 35
I10-index: 45
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