Ataf Sabir

13PUBLICATIONS
287CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Sensory systemsNeurology and neuromuscular diseasesInfant and child healthMolecular targets
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Publications (13)

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Oct 10, 2023
Growth reference charts for children with hypochondroplasia.

Moira S Cheung, Tim J Cole, Paul Arundel

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Frequent Collaborators

2 joint publications

Carmen Ayuso

2 joint publications

David G Birch

2 joint publications

Kim Rodenburg

2 joint publications

Sandro Banfi