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authIdHal_s : gael-nicolas1
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , et al.
Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩
Journal articles hal-02538173v1
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati , Donatella Giovannini , Gaël Nicolas , Uriel López-Sánchez , Beatriz Quintáns , et al.
Nature Genetics, 2015, 47 (6), pp.579-581. ⟨10.1038/ng.3289⟩
Journal articles hal-02109489v1

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease

Emmanuelle Boscher , Thomas Husson , Olivier Quenez , Annie Laquerrière , Florent Marguet , et al.
Journal of Alzheimer's Disease, 2019, 68 (3), pp.1243-1255. ⟨10.3233/JAD-180940⟩
Journal articles hal-02539727v1

Rituximab treatment in seronegative autoimmune autonomic neuropathy and autoimmune autonomic ganglionopathy: Case-report and literature review

M. Bouxin , B. Schvartz , S. Mestrallet , A. Debrumetz , Maxime Hentzien , et al.
Journal of Neuroimmunology, 2019, 326, pp.28-32. ⟨10.1016/j.jneuroim.2018.11.009⟩
Journal articles hal-02883130v1

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , et al.
Human Mutation, 2022, 43 (9), pp.1239-1248. ⟨10.1002/humu.24384⟩
Journal articles hal-03822689v1

Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

Gaël Nicolas , David Wallon , Claudia Goupil , Anne-Claire Richard , Cyril Pottier , et al.
European Journal of Human Genetics, 2015, 24 (1), pp.92-98. ⟨10.1038/ejhg.2015.61⟩
Journal articles hal-01234142v1

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref-Eshghi , Jennifer Kerkhof , Victor Pedro , Mouna Barat-Houari , Nathalie Ruiz-Pallares , et al.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Journal articles hal-02538107v1

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

T. Smol , F. Petit , A. Piton , B. Keren , D. Sanlaville , et al.
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
Journal articles hal-02393664v1

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Isabelle Le Ber , Inge van Bortel , Gael Nicolas , Kawtar Bouya-Ahmed , Agnès Camuzat , et al.
Neurobiology of Aging, 2014, 35 (4), pp.934.e5-6
Journal articles hal-01245808v1
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Slc20a2 , Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength

Sarah Beck‐cormier , Christopher J. Lelliott , John Logan , David Lafont , Laure Merametdjian , et al.
Journal of Bone and Mineral Research, 2019, 34 (6), pp.1101-1114/e3691. ⟨10.1002/jbmr.3691⟩
Journal articles hal-02333779v1

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

K. Le Guennec , O. Quenez , G. Nicolas , D. Wallon , S. Rousseau , et al.
Molecular Psychiatry, 2017, Equipe I, 22 (8), pp.1119--1125. ⟨10.1038/mp.2016.226⟩
Journal articles hal-01832142v1

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

A. Legati* , D. Giovannini* , G. Nicolas , U. Lopez-Sanchez , B. Quintans , et al.
Nature Genetics, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩
Journal articles hal-02187402v1

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

Thomas Husson , Jean-Baptiste Duboc , Olivier Quenez , Camille Charbonnier , Maud Rothärmel , et al.
Translational Psychiatry, 2018, 8 (1), pp.268. ⟨10.1038/s41398-018-0291-7⟩
Journal articles hal-02540043v1

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years

Morgane Lacour , Olivier Quenez , Anne Rovelet-Lecrux , Bruno Salomon , Stéphane Rousseau , et al.
Journal of Alzheimer's Disease, 2019, 71 (1), pp.227-243. ⟨10.3233/JAD-190193⟩
Journal articles hal-02332506v1
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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

S. David , Jorge Ferreira , O. Quenez , A. Rovelet-Lecrux , A.-C. Richard , et al.
European Journal of Human Genetics, 2016, 24 (11), pp.1630--1634. ⟨10.1038/ejhg.2016.50⟩
Journal articles hal-01397791v1

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Gaël Nicolas , Cyril Pottier , Camille Charbonnier , Lucie Guyant-Maréchal , Isabelle Le Ber , et al.
Brain - A Journal of Neurology , 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Journal articles hal-01133847v1

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Journal articles hal-02883904v1
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Diagnostic et caractérisation de la démence dans une cohorte de patients schizophrènes d'âge moyen

Gaël Nicolas
Médecine humaine et pathologie. 2012
Master thesis dumas-00758418v1
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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Maud Blanluet , Sandra Chantot-Bastaraud , Pascal Chambon , Kévin Cassinari , Gabriella Vera , et al.
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
Journal articles inserm-03856026v1

Dementia in middle-aged patients with schizophrenia.

Gaël Nicolas , Laurène Beherec , Didier Hannequin , Gaëlle Opolczynski , Maud Rothärmel , et al.
Journal of Alzheimer's Disease, 2014, 39 (4), pp.809-22
Journal articles hal-01141155v1

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Eliana Marisa Ramos , Miryam Carecchio , Roberta Lemos , Joana Ferreira , Andrea Legati , et al.
European Journal of Human Genetics, 2018, 26 (10), pp.1462-1477. ⟨10.1038/s41431-018-0185-4⟩
Journal articles hal-02540078v1
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Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Anne Rovelet-Lecrux , Sebastien Feuillette , Laetitia Miguel , Catherine Schramm , Ségolène Pernet , et al.
Acta Neuropathologica Communications, 2021, 9, ⟨10.1186/s40478-021-01294-4⟩
Journal articles hal-03512083v1

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , et al.
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
Journal articles hal-02356422v1

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Lou Grangeon , David Wallon , Camille Charbonnier , Olivier Quenez , Anne-Claire Richard , et al.
Brain - A Journal of Neurology , 2019, 142 (6), pp.1573-1586. ⟨10.1093/brain/awz095⟩
Journal articles hal-02538301v1
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Gaël Nicolas , Rocio Acuna-Hidalgo , Michael Keogh , Olivier Quenez , Marloes Steehouwer , et al.
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018, 14 (12), pp.1632-1639. ⟨10.1016/j.jalz.2018.06.3056⟩
Journal articles hal-02540061v1

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

François Lecoquierre , Anne‐claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin , et al.
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Journal articles hal-02538246v1