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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

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.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
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.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.100⟩
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.
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
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.
Neurology, 2016, 87 ((9)), pp.912-9. ⟨10.1212/WNL.0000000000003048⟩
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.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.96. ⟨10.1186/1750-1172-7-96⟩
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.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
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.
BMC Medicine, 2013, 11 (1), pp.59. ⟨10.1186/1741-7015-11-59⟩
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.
Mol Syndromol, 2010, 1 (2), pp.67-74. ⟨10.1159/000313786⟩
Journal articles inserm-00538240v1

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.
Human Molecular Genetics, 2007, 16 (1), pp.83-91. ⟨10.1093/hmg/ddl443⟩
Journal articles hal-01440622v1

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.
Human Mutation, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩
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 of Medical Genetics, 2017, 54 (9), pp.607-612. ⟨10.1136/jmedgenet-2016-104402⟩
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.
Breast Cancer Research, 2012, 14 (4), pp.R99. ⟨10.1186/bcr3218⟩
Journal articles inserm-00724092v1

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.
EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩
Journal articles hal-02904510v1

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.
neurogenetics, 2012, 13 (1), pp.49-59. ⟨10.1007/s10048-011-0307-4⟩
Journal articles istex hal-00720089v1

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.
Oncogene, 2004, 23 (53), pp.8597-8602. ⟨10.1038/sj.onc.1207845⟩
Journal articles hal-03106941v1

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 of Neuromuscular Diseases, 2016, 3 (4), pp.487-495. ⟨10.3233/JND-160177⟩
Journal articles hal-02452334v1

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.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
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.
European Journal of Human Genetics, 2011, 19 (11), pp.1198-201. ⟨10.1038/ejhg.2011.95⟩
Journal articles hal-00649446v1

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.
International Journal of Cancer, 2017, 140 (7), pp.1653-1661. ⟨10.1002/ijc.30584⟩
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.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
Journal articles pasteur-01342825v1

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots , Taryn Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , et al.
American Journal of Human Genetics, 2023, ⟨10.1016/j.ajhg.2023.04.008⟩
Journal articles hal-04102199v1

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.
European Journal of Human Genetics, 2018, 26 (12), pp.1732-1742. ⟨10.1038/s41431-018-0224-1⟩
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.
PLoS ONE, 2012, 7 (3), ⟨10.1371/journal.pone.0030778⟩
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.
PLoS Medicine, 2017, 14 (3), pp.e1002270. ⟨10.1371/journal.pmed.1002270⟩
Journal articles hal-01767838v1

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.
Cancer Research, 2015, 75 (17), pp.3446-3455. ⟨10.1158/0008-5472.CAN-14-3051⟩
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.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
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.
BMC Cancer, 2016, 16 (1), pp.606 - 606. ⟨10.1186/s12885-015-2028-9⟩
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.
Acta Neuropathologica Communications, 2019, 7 (1), pp.191. ⟨10.1186/s40478-019-0841-0⟩
Journal articles hal-02538271v1

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.
Pediatric Radiology, 2018, 48 (10), pp.1463 - 1471. ⟨10.1007/s00247-018-4167-z⟩
Journal articles inserm-02457366v1