Penny Snell

4PUBLICATIONS
141CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesCellular nervous system
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Publications (4)

|Jul 20, 2026
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

|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 HCN2 cause severe neurodevelopmental disorders.

Clara Houdayer, A Marie Phillips, Marie Chabbert

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Frequent Collaborators

2 joint publications

Paul J Lockhart

2 joint publications

Boris Keren

2 joint publications

Perrine Charles

2 joint publications

Cas Simons