Sandrine Passemard

12PUBLICATIONS
144CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Cell and nuclear divisionInfant and child health
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Publications (12)

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Mar 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.

Clarisse Gins, Fabien Guimiot, Séverine Drunat

|Feb 11, 2025
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects.

Sophie Lebon, Arnaud Bruneel, Séverine Drunat

|Jul 14, 2023
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Sarah Farcy, Hassina Hachour, Nadia Bahi-Buisson

|Jun 21, 2022
Neurological outcome in WDR62 primary microcephaly.

Lyse Ruaud, Séverine Drunat, Monique Elmaleh-Bergès

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Frequent Collaborators

3 joint publications

Yoann Vial

3 joint publications

Vincent El Ghouzzi

3 joint publications

Séverine Drunat

2 joint publications

Sarah Duerinckx