Matthew Osmond

8PUBLICATIONS
165CO-AUTHORS
Neurology and neuromuscular diseasesGene and molecular therapyNeonatologyInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (8)

|Jun 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

|Oct 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.

Matthew Osmond, E Magda Price, Orion J Buske

|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

|Jan 27, 2025
<i>NUBP2</i> deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

Rebekah Rushforth, Hanan E Shamseldin, Nicole Costantino

|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein, Sébastien Küry, Victoria Most

|Apr 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Daniel G Calame, Isabella Herman, Reza Maroofian

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Frequent Collaborators

4 joint publications

Kym M Boycott

2 joint publications

Michael Brudno

2 joint publications

Laurence Faivre

2 joint publications

Andrei L Turinsky