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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
Article dans une revue
hal-01502135v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
et al.
Article dans une revue
hal-02064139v1
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Heather E. Olson
,
Nolwenn Jean-Marçais
,
Edward Yang
,
Delphine Héron
,
Katrina Tatton-Brown
et al.
Article dans une revue
hal-02064909v1
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stephanie Valence
,
Emmanuelle Cochet
,
Christelle Rougeot
,
Catherine Garel
,
Sandra Chantot-Bastaraud
et al.
Article dans une revue
hal-01932802v1
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OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome
Véronique Chevrier
,
Ange-Line Bruel
,
Teunis J. P. van Dam
,
Brunella Franco
,
Melissa Lo Scalzo
et al.
Article dans une revue
hal-01408932v1
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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel
,
Brunella Franco
,
Yannis Duffourd
,
Julien Thévenon
,
Laurence Jego
et al.
Article dans une revue
hal-01789377v1
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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher
,
Ange-Line Bruel
,
Teunis J. P. van Dam
,
Katarzyna Szymańska
,
Gisela G. Slaats
et al.
Article dans une revue
hal-01409162v1
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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
Martial Mallaret
,
Mathilde Renaud
,
Claire Redin
,
Nathalie Drouot
,
Jean Muller
et al.
Article dans une revue
hal-01405178v1
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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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