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Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study
Guillaume Jouret
,
Solveig Heide
,
Arthur Sorlin
,
Laurence Faivre
,
Sandra Chantot-Bastaraud
et al.
Article dans une revue
inserm-03837963v1
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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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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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