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Penny Snell

3PUBLICATIONS

139CO-AUTHORS

Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesCellular nervous system

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Publications (3)

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|Sep 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Jul 11, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Apr 02, 2024

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

Clara Houdayer, A Marie Phillips, Marie Chabbert

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Paul J Lockhart

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Boris Keren

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Marie Chabbert

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Reza Maroofian

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Henry Houlden

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Kay Richards

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Nebal Waill Saadi

Frequent Collaborators

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Paul J Lockhart

2 joint publications

Boris Keren

2 joint publications

Perrine Charles

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Cas Simons

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