Sacha Weber

4PUBLICATIONS
102CO-AUTHORS
Anthropological geneticsEpigenetics (incl. genome methylation and epigenomics)Electrochemical energy storage and conversionImmunogenetics (incl. genetic immunology)
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Publications (4)

|Jun 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Camilla Sarli, Liselot van der Laan, Jack Reilly

|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara

|Dec 08, 2022
Two RFC1 splicing variants in CANVAS.

Sacha Weber, Giulia Coarelli, Anna Heinzmann

|Aug 01, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Henri Margot, Guilaine Boursier, Claire Duflos

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Frequent Collaborators

2 joint publications

Antonio Vitobello

2 joint publications

Laurence Faivre

1 joint publications

Henri Margot

1 joint publications

Elise Brischoux-Boucher