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authFullName_s : Stanislas Lyonnet

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen , Vincent Gatinois , Vera Riehmer , Hulya Kayserili , Jutta Becker et al.
Human Mutation, 2016, 37 (9), pp.847 - 864. ⟨10.1002/humu.23026⟩
Journal articles hal-01847014v1

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frederic Brioude , Irène Netchine , Françoise Praz , Marilyne Le Jule , Claire Calmel et al.
Human Mutation, 2015, 36 (9), pp.894--902. ⟨10.1002/humu.22824⟩
Journal articles istex hal-01195734v1

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Xiao-Fei Kong , Lisa Worley , Darawan Rinchai , Vincent Bondet , Puthen Veettil Jithesh et al.
Journal of Clinical Immunology, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩
Journal articles pasteur-02900826v1
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Phenotypic similarity for rare disease: ciliopathy diagnoses and subtyping

Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Katy Billot , Marc Lelarge et al.
Journal of Biomedical Informatics, 2019
Journal articles hal-02893160v1

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Caroline Schluth , Roselyne Gesny , Guntram Borck , Richard Redon , Véronique Abadie et al.
American Journal of Medical Genetics Part A, 2008, 146A (1), pp.93-96. ⟨10.1002/ajmg.a.31869⟩
Journal articles istex hal-02087870v1
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Pathways systematically associated to Hirschsprung's disease.

Raquel Fernández , Marta Bleda , Berta Luzón-Toro , Luz García-Alonso , Stacey Arnold et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.187. ⟨10.1186/1750-1172-8-187⟩
Journal articles inserm-00921630v1
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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Enzo Cohen , Sabrina Belkacem , Soumeya Fedala , Nathalie Collot , Eliane Khallouf et al.
Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩
Journal articles inserm-03712902v1
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Anne Guimier , Christopher T. Gordon , François Godard , Gianina Ravenscroft , Myriam Oufadem et al.
American Journal of Human Genetics, 2016, 99 (3), pp.666--673. ⟨10.1016/j.ajhg.2016.06.021⟩
Journal articles hal-01831600v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

C Binquet , Catherine Lejeune , Laurence Faivre , Marion Bouctot , Marie-Laure Asensio et al.
Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩
Journal articles hal-03610031v1

Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1
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Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications

Cécile Louveau , Pierre Ellul , Anton Iftimovici , Julien Dubreucq , Charles Laidi et al.
Journal of Neural Transmission, 2023, Online ahead of print. ⟨10.1007/s00702-023-02586-w⟩
Journal articles inserm-03967430v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Catherine Lejeune , Charley Robert-Viard , Nicolas Meunier-Beillard , Myriam Alice Borel , Léna Gourvès et al.
Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Journal articles hal-03678712v1

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Julie Salomon , Olivier Goulet , Danielle Canioni , Nicole Brousse , Julie Lemale et al.
Human Genetics, 2013, 133 (3), pp.299-310. ⟨10.1007/s00439-013-1380-6⟩
Journal articles hal-00880136v1

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Julia Lauer Zillhardt , Karine Poirier , Loic Broix , Nicolas Lebrun , Adrienne Elmorjani et al.
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
Journal articles hal-01313739v1
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ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Christelle Golzio , Emmanuelle Havis , Philippe Daubas , Gregory Nuel , Candice Babarit et al.
PLoS ONE, 2012, 7 (1), pp.e30677. ⟨10.1371/journal.pone.0030677⟩
Journal articles hal-00686361v1

TP63 gene mutation in ADULT syndrome

Jeanne Amiel , Gaëlle Bougeard , Christine Francannet , Valérie Raclin , Arnold Munnich et al.
European Journal of Human Genetics, 2001, 9 (8), pp.642-645. ⟨10.1038/sj.ejhg.5200676⟩
Journal articles hal-03106954v1
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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

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin , Karine Siquier-Pernet , Michael Nicouleau , Giulia Barcia , Ali Ahmad et al.
Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Journal articles hal-02017665v1

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Laurence Colleaux , Marlène Rio , Solange Heuertz , Séverine Moindrault , Catherine Turleau et al.
European Journal of Human Genetics, 2001, 9 (5), pp.319-327. ⟨10.1038/sj.ejhg.5200591⟩
Journal articles hal-02090216v1

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Loïc de Pontual , Virginie Népote , Tania Attié-Bitach , Hassan Al Halabiah , Ha Trang et al.
Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
Journal articles hal-02342800v1

How has the future investment program stimulated research and innovation in health?

Régis Bordet , Jean-Christophe Dantonel , Eric Vacaresse , Claire Le Jeunne , Nora Benhabiles et al.
Integrative Cancer Therapies, 2022, 77 (1), pp.19-24. ⟨10.1016/j.therap.2022.01.009⟩
Journal articles hal-03738202v1

Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Hugo Garcia , Alice Serafin , Flora Silbermann , Esther Porée , Amandine Viau et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (18), ⟨10.1073/pnas.2115960119⟩
Journal articles hal-03930843v1

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Laïla El Khattabi , Fabien Guimiot , Eva Pipiras , Joris Andrieux , Clarisse Baumann et al.
European Journal of Human Genetics, 2015, 23 (8), pp.1010-1018. ⟨10.1038/ejhg.2014.230⟩
Journal articles hal-01116591v1
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High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy

Sophie Thomas , Ferechte Encha-Razavi , Louise Devisme , Heather C Etchevers , Bettina Bessieres-Grattagliano et al.
Human Mutation, 2010, 31 (10), pp.1134. ⟨10.1002/humu.21329⟩
Journal articles hal-00574003v1
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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

François Cartault , Patrick Munier , Edgar Benko , Isabelle Desguerre , Sylvain Hanein et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (13), pp.4980-4985. ⟨10.1073/pnas.1111596109⟩
Journal articles hal-01285444v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen et al.
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Journal articles hal-01617529v1
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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Christelle Golzio , Jelena Martinovic-Bouriel , Sophie Thomas , Soumaya Mougou-Zrelli , Bettina Grattagliano-Bessieres et al.
American Journal of Human Genetics, 2007, 80 (6), pp.1179-87. ⟨10.1086/518177⟩
Journal articles hal-00172593v1
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Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90 % of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau , Smail Hadj-Rabia , Marguerite Jambou , Sourour Mansour , Philippe Guigue et al.
Human Mutation, 2010, 32 (1), pp.70. ⟨10.1002/humu.21384⟩
Journal articles istex hal-00599475v1

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Mara Cavallin , Maria A Rujano , Nathalie Bednarek , Daniel Medina-Cano , Antoinette Bernabe Gelot et al.
Brain - A Journal of Neurology , 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩
Journal articles hal-02620552v1

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly a.F. Stessman , Marjolein h. Willemsen , Michael Fenckova , Osnat Penn , Alexander Hoischen et al.
American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩
Journal articles hal-01405534v1