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Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

Kilan Le Guennec , Hélène Tubeuf , Didier Hannequin , David Wallon , Olivier Quenez , et al.
Journal of Alzheimer's Disease, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩
Journal articles hal-02356252v1

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

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

Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls

Céline Bellenguez , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , Kilan Le Guennec , et al.
Neurobiology of Aging, 2017, 59, pp.220.e1-220.e9. ⟨10.1016/j.neurobiolaging.2017.07.001⟩
Journal articles hal-01760388v1
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Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Elsa Curtit , Xavier Pivot , Julie Henriques , Sophie Paget-Bailly , Pierre Fumoleau , et al.
Breast Cancer Research, 2016, 19 (1), pp.98. ⟨10.1186/s13058-017-0888-4⟩
Journal articles inserm-01577637v1
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

P. H. Jonson , J. Palmio , M. Johari , S. Penttilä , A. Evilä , et al.
European Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩
Journal articles hal-02304997v1
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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

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

V. Biancalana , S. Scheidecker , M. Miguet , A. Laquerrière , N.B. Romero , et al.
Acta Neuropathologica, 2017, 134 (6), pp.889--904. ⟨10.1007/s00401-017-1748-0⟩
Journal articles hal-01721411v1
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Analysis of shared heritability in common disorders of the brain

Verneri Anttila , Brenda Sullivan , Hilary Finucane , Walter Walters , Jose Bras , et al.
Science, 2018, 360 (6395), eaap8757. ⟨10.1126/science.aap8757⟩
Journal articles cea-01870483v1
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GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients

David G Cox , Elsa Curtit , Gilles G Romieu , Pierre G Fumoleau , Maria Rios , et al.
Journal articles hal-01391480v1

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human.

Charles Coutton , Alexandra S. Vargas , Amir Amiri-Yekta , Zine-Eddine Kherraf , Selima Fourati Ben Mustapha , et al.
Nature Communications, 2018, 9, pp.686. ⟨10.1038/s41467-017-02792-7⟩
Journal articles hal-01724640v1

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
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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.
Preprints, Working Papers, ... hal-02317979v2
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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

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez , Béryl Laplace-Builhé , Frédéric Tran Mau-Them , Eric Richard , Alice Goldenberg , et al.
Genetics in Medicine, 2020, 22 (3), pp.547-556. ⟨10.1038/s41436-019-0669-9⟩
Journal articles hal-02549940v1

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

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau , et al.
European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩
Journal articles hal-01431285v1

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

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Alexandre Belot , Gillian Rice , Sulliman Ommar Omarjee , Quentin Rouchon , Eve Smith , et al.
The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
Journal articles hal-02867795v1

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel , Brunella Franco , Yannis Duffourd , Julien Thévenon , Laurence Jego , et al.
Journal of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal articles hal-01789377v1
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Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients

David Sefrioui , Florence Mauger , Laurence Leclere , Ludivine Beaussire , Frédéric Di Fiore , et al.
Clinica Chimica Acta, 2017, 465, pp.1-4. ⟨10.1016/j.cca.2016.12.004⟩
Journal articles hal-02353197v1

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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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Rebecca Sims , Sven van Der Lee , Adam Naj , Céline Bellenguez , Nandini Badarinarayan , et al.
Nature Genetics, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Journal articles inserm-02466466v1

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

Kevin Cassinari , Olivier Quenez , Géraldine Joly-Helas , Ludivine Beaussire , Nathalie Le Meur , et al.
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Journal articles hal-02339190v1