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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Clinical genetics, 2017-06, Vol.91 (6), p.908-912

2017

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Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

British journal of dermatology (1951), 2017-01, Vol.176 (1), p.204-208

2017

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Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Clinical genetics, 2017-01, Vol.91 (1), p.92-99

2017

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Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.114-115

2020

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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Clinical genetics, 2016-06, Vol.89 (6), p.700-707

2016

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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Molecular psychiatry, 2011-08, Vol.16 (8), p.867-880

2011

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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

Clinical genetics, 2016-05, Vol.89 (5), p.e1-e4

2016

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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Clinical genetics, 2017-02, Vol.91 (2), p.333-338

2017

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Expanding the clinical spectrum of mosaic BRAF skin phenotypes

Journal of the European Academy of Dermatology and Venereology, 2021-10, Vol.35 (10), p.e690-e693

2021

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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

Neurology, 2006-09, Vol.67 (5), p.900

2006

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Clinical genetics, 2016-12, Vol.90 (6), p.509-517

2016

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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

Molecular psychiatry, 2004-03, Vol.9 (3), p.272-277

2004

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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Clinical Genetics, 2018-07, Vol.94 (1), p.182-184

2018

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Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

American journal of human genetics, 2007-02, Vol.80 (2), p.265-272

Anon

2007

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Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

Annales de dermatologie et de vénéréologie, 2017-12, Vol.144 (12), p.S95-S95

2017

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Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Neurology, 2007-09, Vol.69 (13), p.1350

2007

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Evidence of a genetic heterogeneity of familial hydatidiform moles

Placenta (Eastbourne), 2005, Vol.26 (1), p.5-9

2005

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Programmed cell death (apoptosis) is induced rapidly and with positive cooperativity by activation of cyclic adenosine monophosphate-kinase I in a myeloid leukemia cell line

Journal of cellular physiology, 1991-01, Vol.146 (1), p.73-80

1991

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Latent Class Analysis of Gilles de la Tourette Syndrome Using Comorbidities: Clinical and Genetic Implications

Biological psychiatry (1969), 2008-08, Vol.64 (3), p.219-225

2008

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Association between 7q31 markers and tourette syndrome

American journal of medical genetics, 2004-05, Vol.127A (1), p.17-20

2004

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Family-based genetic association study of DLGAP3 in Tourette Syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-01, Vol.156B (1), p.108-114

2011

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Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample

Neurology, 2008-04, Vol.70 (16 Pt 2), p.1495

2008

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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Caractérisation clinique et génétique d’une nouvelle dysplasie ectodermique en mosaïque

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Evidence of a genetic heterogeneity of familial hydatidiform moles

Programmed cell death (apoptosis) is induced rapidly and with positive cooperativity by activation of cyclic adenosine monophosphate-kinase I in a myeloid leukemia cell line

Latent Class Analysis of Gilles de la Tourette Syndrome Using Comorbidities: Clinical and Genetic Implications

Association between 7q31 markers and tourette syndrome

Family-based genetic association study of DLGAP3 in Tourette Syndrome

Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample

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