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Perrine Charles

7PUBLICATIONS

181CO-AUTHORS

Developmental genetics (incl. sex determination)Cellular nervous systemEpigenetics (incl. genome methylation and epigenomics)Infant and child healthNeurology and neuromuscular diseases

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Publications (7)

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|Sep 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Apr 02, 2024

Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disorders.

Clara Houdayer, A Marie Phillips, Marie Chabbert

|Jun 08, 2023

Huntington's Disease with Small CAG Repeat Expansions.

Anna Heinzmann, Sabrina Sayah, François-Xavier Lejeune

|May 26, 2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi

|Jun 20, 2020

Deciphering the natural history of SCA7 in children.

M G Bah, D Rodriguez, C Cazeneuve

|Apr 27, 2019

<i>GJA1</i> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

L Saint-Val, T Courtin, P Charles

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Frequent Collaborators

3 joint publications

Boris Keren

2 joint publications

Reza Maroofian

2 joint publications

Rikke S Møller

2 joint publications

Penny Snell

2 joint publications

Alexandra Durr

2 joint publications

F Mochel

1 joint publications

S T de Bot

1 joint publications

Santhosh Girirajan

1 joint publications

C Toro

1 joint publications

M Riverol

Frequent Collaborators

3 joint publications

Boris Keren

2 joint publications

Reza Maroofian

2 joint publications

Rikke S Møller

2 joint publications

Penny Snell

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