Articles with public access mandates - Alexandre Dionne-LaporteLearn more
Not available anywhere: 10
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
CS Leblond, Z Gan-Or, D Spiegelman, SB Laurent, A Szuto, ...
Neurobiology of aging 37, 209. e17-209. e21, 2016
Mandates: Canadian Institutes of Health Research, Genome Canada
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease
JP Ross, N Dupre, Y Dauvilliers, S Strong, A Ambalavanan, ...
Neurobiology of aging 45, 212. e13-212. e17, 2016
Mandates: Canadian Institutes of Health Research, Natural Sciences and Engineering …
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma
B Rivera, M Di Iorio, J Frankum, J Nadaf, S Fahiminiya, SL Arcand, ...
Cancer research 77 (16), 4517-4529, 2017
Mandates: Canadian Cancer Society, Canadian Institutes of Health Research, Fonds de …
Rare deleterious variants in GRHL3 are associated with human spina bifida
P Lemay, P De Marco, A Emond, D Spiegelman, A Dionne‐Laporte, ...
Human Mutation 38 (6), 716-724, 2017
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
DB Callaghan, S Rogic, PPC Tan, K Calli, Y Qiao, R Baldwin, M Jacobson, ...
Clinical genetics 96 (3), 199-206, 2019
Mandates: Wellcome Trust, Autism Speaks Inc, USA
Parent-child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
FF Hamdan, H Daoud, L Patry, A Dionne‐Laporte, D Spiegelman, ...
Clinical genetics 83 (2), 2013
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé
Oligogenicity, C9orf72 expansion, and variant severity in ALS
JP Ross, CS Leblond, SB Laurent, D Spiegelman, A Dionne-Laporte, ...
neurogenetics 21, 227-242, 2020
Mandates: Canadian Institutes of Health Research
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
E Leveille, MA Estiar, L Krohn, D Spiegelman, A Dionne-Laporte, N Dupré, ...
Journal of Human Genetics 64 (11), 1145-1151, 2019
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé …
Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males
A Ambalavanan, B Chaumette, S Zhou, P Xie, Q He, D Spiegelman, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180 …, 2019
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
H Daoud, EM Papadima, BOA Bencheikh, T Katsila, A Dionne-Laporte, ...
European Journal of Medical Genetics 58 (11), 573-577, 2015
Mandates: Canadian Institutes of Health Research, Natural Sciences and Engineering …
Available somewhere: 33
The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus)
R Ming, S Hou, Y Feng, Q Yu, A Dionne-Laporte, JH Saw, P Senin, ...
Nature 452 (7190), 991-996, 2008
Mandates: US National Institutes of Health
Increased exonic de novo mutation rate in individuals with schizophrenia
SL Girard, J Gauthier, A Noreau, L Xiong, S Zhou, L Jouan, ...
Nature genetics 43 (9), 860-863, 2011
Mandates: Canadian Institutes of Health Research, Genome Canada, National Institute of …
De Novo Mutations in Moderate or Severe Intellectual Disability
FF Hamdan, M Srour, JM Capo-Chichi, H Daoud, C Nassif, L Patry, ...
PLoS genetics 10 (10), e1004772, 2014
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
Mandates: US National Institutes of Health, Genome Canada, UK Medical Research Council
Genetically encoded impairment of neuronal KCC 2 cotransporter function in human idiopathic generalized epilepsy
KT Kahle, ND Merner, P Friedel, L Silayeva, B Liang, A Khanna, Y Shang, ...
EMBO reports 15 (7), 766-774, 2014
Mandates: US National Institutes of Health, Canadian Institutes of Health Research
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia
A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ...
The American Journal of Human Genetics 93 (1), 118-123, 2013
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia
Z Gan-Or, N Bouslam, N Birouk, A Lissouba, DB Chambers, J Vérièpe, ...
The American Journal of Human Genetics 98 (5), 1038-1046, 2016
Mandates: Canadian Institutes of Health Research, Natural Sciences and Engineering …
Exome sequencing reveals SPG11 mutations causing juvenile ALS
H Daoud, S Zhou, A Noreau, M Sabbagh, V Belzil, A Dionne-Laporte, ...
Neurobiology of aging 33 (4), 839. e5-839. e9, 2012
Mandates: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé
SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease
RN Alcalay, V Mallett, B Vanderperre, O Tavassoly, Y Dauvilliers, RYJ Wu, ...
Movement Disorders 34 (4), 526-535, 2019
Mandates: US Department of Defense, US National Institutes of Health, Canadian …
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia
T Esteves, A Durr, E Mundwiller, JL Loureiro, M Boutry, MA Gonzalez, ...
The American Journal of Human Genetics 94 (2), 268-277, 2014
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
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