Publications by authors named "N Smal"

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Noor Smal

Nat Commun· November 2025

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The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Vicente A Yépez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknárová, Noor Smal

Nat Genet· October 2025

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Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.
Noor Smal, Charissa Millevert, Matthias De Wachter, Els De Vriendt, Zakaria Eddafir

Epilepsia· May 2025

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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen

Eur J Hum Genet· November 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Noor Smal

Eur J Hum Genet· August 2024

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