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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.
EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩
Article dans une revue hal-02904510v1

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot , Julien Thévenon , Paul Kuentz , Yannis Duffourd , Emilie Tisserant et al.
Genetics in Medicine, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
Article dans une revue hal-01635326v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Article dans une revue hal-03619568v1

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Daphné Lehalle , Umut Altunoglu , Ange-Line Bruel , Eric Arnaud , Patricia Blanchet et al.
American Journal of Medical Genetics Part A, 2017, 173 (12), pp.3136 - 3142. ⟨10.1002/ajmg.a.38490⟩
Article dans une revue hal-01661829v1
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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Quentin Thomas , Antonio Vitobello , Frédéric Tran Mau-Them , Yannis Duffourd , Agnès Fromont et al.
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Communication dans un congrès hal-03463169v1
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Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures

Julien Thevenon , Nicole Monnier , Patrick Callier , Klaus Dieterich , Michel Francoise et al.
American Journal of Medical Genetics Part A, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
Article dans une revue istex inserm-01120832v1

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel et al.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
Article dans une revue hal-02883449v1

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy

Georges Tarris , Gaël Belliot , Patrick Callier , Frédéric Huet , Laurent Martin et al.
Pediatric Infectious Disease Journal, 2019, 38 (12), pp.e326-e328. ⟨10.1097/INF.0000000000002472⟩
Article dans une revue hal-02380000v1

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel et al.
Human Genetics, 2020, 139 (11), pp.1381-1390. ⟨10.1007/s00439-020-02178-8⟩
Article dans une revue hal-03573698v1

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Quentin Thomas , Antonio Vitobello , Frederic Tran Mau-Them , Yannis Duffourd , Agnès Fromont et al.
Journal of Medical Genetics, 2021, pp.2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
Article dans une revue hal-03266264v1
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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⟩
Article dans une revue pasteur-01342825v1

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Estelle Lopez , Patrick Callier , Valérie Cormier-Daire , Didier Lacombe , Anne Moncla et al.
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
Article dans une revue istex inserm-00662892v1

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Patrick Callier , Pierre Calvel , Armine Matevossian , Periklis Makrythanasis , Pascal Bernard et al.
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
Article dans une revue hal-01063929v1
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton et al.
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Article dans une revue hal-03602359v1

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Sophie Nambot , Alice Masurel , Salima El Chehadeh , Anne-Laure Mosca-Boidron , Christel Thauvin-Robinet et al.
European Journal of Human Genetics, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
Article dans une revue hal-01400905v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Article dans une revue istex hal-01237099v1

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

Laurence Duplomb , Droin N. , Olivier Bouchot , Christel Robinet Thauvin , Ange-Line Bruel et al.
Human Molecular Genetics, 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Article dans une revue hal-01625528v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Article dans une revue hal-01237103v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1