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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.
Article dans une revue
hal-03619568v1
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Estelle Colin
,
Yannis Duffourd
,
Emilie Tisserant
,
Raissa Relator
,
Ange-Line Bruel
et al.
Article dans une revue
hal-03886419v1
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Ange-Line Bruel
,
Sophie Nambot
,
Virginie Quéré
,
Antonio Vitobello
,
Julien Thevenon
et al.
Article dans une revue
hal-02626363v1
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
Lisa Lenaerts
,
Sara Reynhout
,
Iris Verbinnen
,
Frederic Laumonnier
,
Annick Toutain
et al.
Article dans une revue
inserm-03273405v1
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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.
Article dans une revue
hal-03266264v1
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Aurore Garde
,
Jenny Cornaton
,
Arthur Sorlin
,
Sébastien Moutton
,
Claire Nicolas
et al.
Article dans une revue
hal-03124488v1
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
Chloé Angelini
,
Julien van Gils
,
Antoine Bigourdan
,
Pierre-Simon Jouk
,
Didier Lacombe
et al.
Article dans une revue
hal-01952641v1
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Gerarda Cappuccio
,
Camille Sayou
,
Pauline Le Tanno
,
Emilie Tisserant
,
Ange-Line Bruel
et al.
Article dans une revue
hal-02928068v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
Natacha Lehman
,
Anne-Claire Mazery
,
Antoine Visier
,
Clarisse Baumann
,
Dominique Lachesnais
et al.
Article dans une revue
hal-01560204v1
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Delineating FOXG1 syndrome
Nancy Vegas
,
Mara Cavallin
,
Camille Maillard
,
Nathalie Boddaert
,
Joseph Toulouse
et al.
Article dans une revue
hal-01920261v1
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon
,
Antonio Vitobello
,
Robert Olaso
,
Alban Ziegler
,
Médéric Jeanne
et al.
Article dans une revue
hal-03854163v1
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2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Ange-Line Bruel
,
Antonio Vitobello
,
Frédéric Tran Mau-Them
,
Sophie Nambot
,
Yannis Duffourd
et al.
Article dans une revue
hal-01978260v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen
,
Elena Gardella
,
Cathrine E Gjerulfsen
,
Allan Bayat
,
Rob P W Rouhl
et al.
Article dans une revue
hal-03881856v1
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor
,
Lynette Sadleir
,
Reza Asadollahi
,
Silvia Azzarello-Burri
,
Agatino Battaglia
et al.
Article dans une revue
hal-02063487v1
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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.
Article dans une revue
hal-01626052v1
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
Anne-Sophie Jourdain
,
Florence Petit
,
Marie-Françoise Odou
,
Malika Balduyck
,
Perrine Brunelle
et al.
Article dans une revue
hal-02393697v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jeremie Courraud
,
Eric Chater-Diehl
,
Benjamin Durand
,
Marie Vincent
,
Maria del Mar Muniz Moreno
et al.
Article dans une revue
hal-03269307v1
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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.
Article dans une revue
hal-01237103v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre
,
Véronique Abadie
,
Tania Attié-Bitach
,
Nicole Philip
,
Tiffany Busa
et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
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hal-01691932v1
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
Tristan Sands
,
Francesco Miceli
,
Gaetan Lesca
,
Anita Beck
,
Lynette Sadleir
et al.
Article dans une revue
hal-02151807v1
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