Michael Kruer

25PUBLICATIONS
240CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesClinical nutritionInfant and child health
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Publications (25)

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Jan 14, 2026
A transposase-derived gene required for human brain development.

Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez

|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Oct 24, 2025
Combined Dietary Restriction and Chelation Therapy Reduces Manganese Burden in SLC39A14-Associated Manganism.

Michael C Kruer, Peter T Skidmore, Brielle Edwards

|Apr 28, 2025
Multicenter Improvement in Screening for Dystonia in Young People With Cerebral Palsy.

Bhooma Rajagopalan Aravamuthan, Emma J Lott, Esra Pehlivan

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Frequent Collaborators

6 joint publications

Sara A Lewis

5 joint publications

Michael C Fahey

4 joint publications

Juliette Piard

4 joint publications

Benjamin Cogné