Lynn S Pais
4PUBLICATIONS
54CO-AUTHORS
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Publications (4)
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|Mar 13, 2026
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathy.Katarzyna Ochenkowska, Bryce Rampal, Antoine Légaré
|Apr 02, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disorders.Clara Houdayer, A Marie Phillips, Marie Chabbert
|Mar 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomics.Lynn S Pais, Hana Snow, Ben Weisburd
|Jan 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung
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Frequent Collaborators
4 joint publications
Anne O'Donnell-Luria
2 joint publications
Grace E VanNoy
1 joint publications
Daniel Natera-de Benito
1 joint publications
Irina T Zaharieva
1 joint publications
John Christodoulou
1 joint publications
A Marie Phillips
1 joint publications
Marie Chabbert
1 joint publications
Reza Maroofian
1 joint publications
Henry Houlden
1 joint publications
Kay Richards
