Lynn S Pais

5PUBLICATIONS
95CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Cellular nervous systemSequence analysisDynamics, vibration and vibration control
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Publications (5)

|Oct 25, 2026
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.

|Mar 13, 2026
Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.

Katarzyna Ochenkowska, Bryce Rampal, Antoine Légaré

|Apr 02, 2024
Mono and biallelic variants in HCN2 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

5 joint publications

Anne O'Donnell-Luria

2 joint publications

Heidi L Rehm

2 joint publications

Grace E VanNoy

1 joint publications

Daniel Natera-de Benito