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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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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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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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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Johannes Luppe
,
Heinrich Sticht
,
François Lecoquierre
,
Alice Goldenberg
,
Kathleen M Gorman
,
et al.
Journal articles
hal-04127225v1
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese
,
Mitali Patel
,
Amelia Shoemark
,
Santeri Kiviluoto
,
Marie Legendre
,
et al.
Journal articles
hal-01560951v1
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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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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Claire Bar
,
Delphine Breuillard
,
Mathieu Kuchenbuch
,
Mélanie Jennesson
,
Gwenaël Le Guyader
,
et al.
Journal articles
hal-03485808v1
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RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome
Léo Mietton
,
Nicolas Lebrun
,
Irina Giurgea
,
Alice Goldenberg
,
Benjamin Saintpierre
,
et al.
Journal articles
inserm-03798407v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
,
et al.
Journal articles
hal-01560452v1
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
,
Florence Riccardi
,
Aude Tessier
,
Rolph Pfundt
,
Tiffany Busa
,
et al.
Journal articles
istex
hal-01469066v1
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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants
Pascaline Gaildrat
,
Saïd Lebbah
,
Abdellah Tebani
,
Bénédicte Sudrié-Arnaud
,
Isabelle Tostivint
,
et al.
Journal articles
hal-02336138v1
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
Mathilde Nizon
,
Marcia Henry
,
Caroline Michot
,
Clarisse Baumann
,
Anne Bazin
,
et al.
Journal articles
hal-01255844v1
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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Juliette Coursimault
,
Anne Rovelet-Lecrux
,
Kévin Cassinari
,
Elise Brischoux-Boucher
,
Pascale Saugier-Veber
,
et al.
Journal articles
hal-03822689v1
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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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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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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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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
Raphael Carapito
,
Alice Goldenberg
,
Nicodème Paul
,
Angélique Pichot
,
Albert David
,
et al.
Journal articles
inserm-01701252v1
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First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.
Nicole Monnier
,
Annie Laquerrière
,
Stéphane Marret
,
Alice Goldenberg
,
Isabelle Marty
,
et al.
Journal articles
inserm-00516069v1
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Type I hyperprolinemia: genotype/phenotype correlations
Audrey Guilmatre
,
Solenn Legallic
,
Gary Steel
,
Alecia Willis
,
Gabriella Di Rosa
,
et al.
Journal articles
hal-00599468v1
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A novel recurrent LIS1 splice site mutation in classic lissencephaly
Marion Philbert
,
Camille Maillard
,
Mara Cavallin
,
Alice Goldenberg
,
Cecile Masson
,
et al.
Journal articles
hal-03676402v1
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iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS
Vincent Gatinois
,
Romain Desprat
,
Lydiane Pichard
,
Fabienne Becker
,
Alice Goldenberg
,
et al.
Journal articles
hal-03576948v1
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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 articles
hal-03619568v1
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10q26 deletion syndrome: a French cohort study
Hugo Thorn
,
Sylvie Odent
,
Jonathan Levy
,
Anne-Claude Tabet
,
Julien Thevenon
,
et al.
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324
Conference papers
hal-03693284v1
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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.
Journal articles
inserm-00662892v1
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Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia
Loic de Pontual
,
Marie Cognet
,
Agnès Nougayrede
,
Valérie Malan
,
Patrick Callier
,
et al.
Journal articles
hal-00608020v1
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Natural history of Barth syndrome: a national cohort study of 22 patients.
Charlotte Rigaud
,
Anne-Sophie Lebre
,
Renaud Touraine
,
Blandine Beaupain
,
Chris Ottolenghi
,
et al.
Journal articles
inserm-00823569v1
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