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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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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Jean Muller
,
Corinne Stoetzel
,
Marie-Claire Vincent
,
Carmen C Leitch
,
Virginie Laurier
,
et al.
Journal articles
inserm-00462147v1
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Contribution of bioinformatics predictions and of functional splicing assays to the interpretation of unclassified variants of the BRCA genes
Jean Christophe Théry
,
Sophie Krieger
,
Pascaline Gaildrat
,
Françoise Révillon
,
Marie-Pierre Buisine
,
et al.
Journal articles
hal-00652134v1
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
Philippe Khau van Kien
,
David Baux
,
Nathalie Pallares-Ruiz
,
Corinne Baudoin
,
Aurélie Plancke
,
et al.
Journal articles
hal-01669921v1
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Seizures in dominantly inherited Alzheimer disease
Aline Zarea
,
Camille Charbonnier
,
Anne Rovelet-Lecrux
,
Gaël Nicolas
,
Stéphane Rousseau
,
et al.
Journal articles
inserm-01371485v1
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
David Cheillan
,
Marie Joncquel-Chevalier Curt
,
Gilbert Briand
,
Gajja Salomons
,
Karine Mention-Mulliez
,
et al.
Journal articles
inserm-00780328v1
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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot
,
Carole Corsini
,
Damien Sanlaville
,
Clarisse Baumann
,
Annick Toutain
,
et al.
Journal articles
hal-00916763v1
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Worse prognosis of KRAS c.35 G > A mutant metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx).
Gemma Bruera
,
Katia Cannita
,
Daniela Di Giacomo
,
Aude Lamy
,
Thierry Frébourg
,
et al.
Journal articles
inserm-00817083v1
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Laurence Desmyter
,
Michella Ghassibé
,
Nicole Revencu
,
Odile Boute
,
M. Lees
,
et al.
Journal articles
inserm-00538240v1
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Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
Gregory Raux
,
Emilie Bumsel
,
Bernadette Hecketsweiler
,
Therese Van Amelsvoort
,
Janneke Zinkstok
,
et al.
Journal articles
hal-01440622v1
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Vincent Laugel
,
Cécile Dalloz
,
M. Durand
,
Florence Sauvanaud
,
Hans-Ulrik Kristensen
,
et al.
Journal articles
inserm-00436454v1
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Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Fanélie Jouenne
,
Isaure Chauvot de Beauchêne
,
Emeline Bollaert
,
Marie-Francoise Avril
,
Olivier Caron
,
et al.
Journal articles
hal-01580787v1
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Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1/2 carrier cohort (GENEPSO).
Julie Lecarpentier
,
Catherine Noguès
,
Emmanuelle Mouret-Fourme
,
Marion Gauthier-Villars
,
Christine Lasset
,
et al.
Journal articles
inserm-00724092v1
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Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus
Daphne Lehalle
,
Umut Altunoglu
,
Ange‐line Bruel
,
Mirna Assoum
,
Yannis Duffourd
,
et al.
Journal articles
hal-02904510v1
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Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Mariola Marx
,
Simone Diestel
,
Muriel Bozon
,
Laura Keglowich
,
Nathalie Drouot
,
et al.
Journal articles
istex
hal-00720089v1
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Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability
Audrey Killian
,
Nathalie Le Meur
,
Richard Sesboüé
,
Jeannette Bourguignon
,
Gaëlle Bougeard
,
et al.
Journal articles
hal-03106941v1
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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
Sarah Grotto
,
Jean-Marie Cuisset
,
Stéphane Marret
,
Séverine Drunat
,
Patricia Faure
,
et al.
Journal articles
hal-02452334v1
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari
,
Bruno Dumont
,
Aurelie J Fabre
,
Frédéric Tm Them
,
Yves Alembik
,
et al.
Journal articles
hal-01239808v1
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Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
Jamal Ghoumid
,
Joris Andrieux
,
Bernard Sablonnière
,
Sylvie Odent
,
Nathalie Philippe
,
et al.
Journal articles
hal-00649446v1
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Copy number variations in DCC/ 18q and ERBB2/ 17q are associated with disease-free survival in microsatellite stable colon cancer
David Sefrioui
,
Thomas Vermeulin
,
France Blanchard
,
Caroline Chapusot
,
Ludivine Beaussire
,
et al.
Journal articles
hal-02353187v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Anne-Laure Mosca-Boidron
,
Lucie Gueneau
,
Guillaume Huguet
,
Alice Goldenberg
,
Céline Henry
,
et al.
Journal articles
pasteur-01342825v1
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots
,
Taryn Jakub
,
Crystal Keung
,
Adam Jackson
,
Siddharth Banka
,
et al.
Journal articles
hal-04102199v1
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Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
Pascal Pujol
,
Pierre Vande Perre
,
Laurence Faivre
,
Damien Sanlaville
,
Carole Corsini
,
et al.
Journal articles
hal-01870352v1
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Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
Sylvie Tordjman
,
George M. Anderson
,
Michel Botbol
,
Annick Toutain
,
Pierre Sarda
,
et al.
Journal articles
hal-01439710v1
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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Hélène-Marie Lanoiselée
,
Gaël Nicolas
,
David Wallon
,
Anne Rovelet-Lecrux
,
Morgane Lacour
,
et al.
Journal articles
hal-01767838v1
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Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
Pauline Maby
,
David Tougeron
,
Mohamad Hamieh
,
Bernhard Mlecnik
,
Hafid Kora
,
et al.
Journal articles
hal-01972996v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier
,
B. Aral
,
N. Hanna
,
S. Lambert
,
H. Dindy
,
et al.
Journal articles
hal-01068032v1
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GENESIS: a French national resource to study the missing heritability of breast cancer
Olga M Sinilnikova
,
Marie-Gabrielle Dondon
,
Séverine Eon-Marchais
,
Francesca Damiola
,
Laure Barjhoux
,
et al.
Journal articles
hal-01662200v1
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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
Alice Goldenberg
,
Florent Marguet
,
Vianney Gilard
,
Aude-Marie Cardine
,
Adnan Hassani
,
et al.
Journal articles
hal-02538271v1
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Morphological features in juvenile Huntington disease associated with cerebellar atrophy -magnetic resonance imaging morphometric analysis
Abderrahmane Hedjoudje
,
Gaël Nicolas
,
Alice Goldenberg
,
Catherine Vanhulle
,
Clémentine Dumant-Forrest
,
et al.
Journal articles
inserm-02457366v1
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