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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
- Published in:
- 2008
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- Publication type:
- journal article
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
- Published in:
- PLoS Biology, 2016, v. 14, n. 3, p. 1, doi. 10.1371/journal.pbio.1002416
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- Publication type:
- Article
Validity and diagnostic performance of a virtual reality-based supermarket application "MEMOSHOP" for assessing episodic memory in normal and pathological aging.
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- Digital Health, 2023, v. 9, p. 1, doi. 10.1177/20552076231218808
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- Publication type:
- Article
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
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- Journal of Child Neurology, 2020, v. 35, n. 2, p. 106, doi. 10.1177/0883073819878917
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- Publication type:
- Article
The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.
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- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1173, doi. 10.1002/jgc4.1284
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- Publication type:
- Article
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
- Published in:
- 2015
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- Publication type:
- journal article
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
- Published in:
- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01204-y
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- Publication type:
- Article
Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 122, doi. 10.1002/ajmg.c.31361
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- Publication type:
- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Publication type:
- Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
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- Publication type:
- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
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- Publication type:
- Article
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091
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- Publication type:
- Article
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002
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- Publication type:
- Article
Validity and diagnostic performance of a virtual reality-based supermarket application "MEMOSHOP" for assessing episodic memory in normal and pathological aging.
- Published in:
- Digital Health, 2023, p. 1, doi. 10.1177/20552076231218808
- By:
- Publication type:
- Article
LINGO1 Variants in the French-Canadian Population.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016254
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- Publication type:
- Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
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- Publication type:
- Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
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- Publication type:
- Article
Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 486, doi. 10.1038/sj.ejhg.5201353
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- Publication type:
- Article
A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
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- Pediatric Dermatology, 2022, v. 39, n. 2, p. 281, doi. 10.1111/pde.14923
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- Publication type:
- Article
Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.
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- Pediatric Dermatology, 2019, v. 36, n. 6, p. 869, doi. 10.1111/pde.13913
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- Publication type:
- Article
Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.
- Published in:
- European Journal of Preventive Cardiology, 2019, v. 26, n. 12, p. 1262, doi. 10.1177/2047487319829746
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- Publication type:
- Article
HUMAN MOTION PERCEPTION THROUGH VIDEO MODEL-BASED TRACKING.
- Published in:
- International Journal of Humanoid Robotics, 2006, v. 3, n. 3, p. 341
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- Publication type:
- Article
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488
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- Publication type:
- Article
Cohen syndrome is associated with major glycosylation defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
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- Publication type:
- Article
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
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- Movement Disorders, 2024, v. 39, n. 2, p. 400, doi. 10.1002/mds.29669
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- Publication type:
- Article
Both Rare and <i>De Novo</i> Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003823
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- Publication type:
- Article
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
- Published in:
- 2016
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- Publication type:
- journal article
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. 1576, doi. 10.1002/humu.24285
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- Publication type:
- Article
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1065, doi. 10.1093/hmg/ddn443
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- Publication type:
- Article
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
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- Neurogenetics, 2019, v. 20, n. 2, p. 103, doi. 10.1007/s10048-019-00572-7
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- Publication type:
- Article
Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 123, doi. 10.1111/j.1529-8027.2012.00374.x
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- Publication type:
- Article
Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort.
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- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 5, p. 772, doi. 10.1017/S0317167100012300
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- Publication type:
- Article
Genome-Wide TDT Analysis in French-Canadian Families with Tourette Syndrome.
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- Canadian Journal of Neurological Sciences, 2010, v. 37, n. 1, p. 110
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- Publication type:
- Article
LRRK2 is not a Significant Cause of Parkinson's Disease in French-Canadians.
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- Canadian Journal of Neurological Sciences, 2007, v. 34, n. 3, p. 333, doi. 10.1017/S0317167100006776
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- Publication type:
- Article