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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 articles
hal-02356252v1
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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.
Journal articles
hal-01832142v1
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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 articles
hal-02539727v1
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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.
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.
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.
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.
Journal articles
hal-02538173v1
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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.
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.
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
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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.
Journal articles
hal-01724640v1
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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.
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.
2019
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.
Journal articles
hal-01397791v1
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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.
Journal articles
hal-02549940v1
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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.
Journal articles
hal-02883904v1
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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.
Journal articles
hal-01431285v1
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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 articles
hal-02332506v1
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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.
Journal articles
hal-02867795v1
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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 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.
Journal articles
hal-02353197v1
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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.
Journal articles
hal-02356422v1
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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.
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.
Journal articles
inserm-02466466v1
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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.
Journal articles
hal-02339190v1
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