Julian Delanne

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Developmental Biology, Cause Neurodevelopmental Delay, Genetic Disorder +9

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

Svitlana Podliesna, Julian Delanne, Lindsey Miller et al. · Heart Rhythm · 2018 · 27 citations

Cardiomyopathy, Same Rare Variant, Cardiovascular Disease +9

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Christel Thauvin‐Robinet, Julien Thévenon, Sophie Nambot et al. · European Journal of Human Genetics · 2019 · 25 citations · Full text

Infertility, Exome Sequencing, Genetic Epidemiology +11

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 23 citations · Full text