Get started
Author

Noor Smal

Observed names: N Smal, N. Smal, Smal N, Smal, N., Smal, Noor
ORCID: 0000-0003-4335-1583
Observed ORCID: 0000-0003-4335-1583
OpenAlex ID: A5024520154
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2021 · Sathiya N Manivannan, Jolien Roovers, et al. · Brain · 19
PDF
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
2024 · Fang Yang, Anais Begemann, et al. · The American Journal of Human Genetics · 13
PDF
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
2023 · N. Dirkx, Wout J. Weuring, et al. · BMC Biology · 11
PDF
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
2025 · Ghayda M. Mirzaa, Keqin Yan, et al. · Nature Communications · 9
PDF
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 8
PDF
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
2025 · Vicente A. Yépez, German Demidov, et al. · Nature Genetics · 6
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
2024 · Noor Smal, Fatma Majdoub, et al. · European Journal of Human Genetics · 4
PDF
Efficient and accurate prime editing strategy to correct genetic alterations in hiPSC using single EF-1alpha driven all-in-one plasmids
2022 · Wout J. Weuring, N Dirkx, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 3
PDF
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
2025 · Noor Smal, Charissa Millevert, et al. · Epilepsia · 2
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 2
PDF
Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium
2026 · Vicente A. Yépez, Rebeka Luknárová, et al. · medRxiv · 1
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
2026 · Valentina Serpieri, Myriam Vezain-Mouchard, et al. · The American Journal of Human Genetics
Correction to: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease (Nature Genetics, (2025), 57, 10, (2361-2370), 10.1038/s41588-025-02290-3)
2026 · Vicente A. Yépez, German Demidov, et al. · Newcastle University ePrints (Newcastle Univesity)
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
2026 · Vicente A. Yépez, German Demidov, et al. · Nature Genetics
PDF
First edition of the joint international Cambridge-Antwerp Bioinformatics Hackathon
2025 · Darina Abaffyová, Charlotte Adams, et al.
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
2025 · Yepez VA, Demidov G, et al. · Newcastle University ePrints (Newcastle Univesity)
Additional file 2 of Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
2023 · Dirkx, N., Weuring, Wout J., et al. · Figshare
List of Contributors
2018 · Sergio Acosta, Lorenzo Albertazzi, et al. · Elsevier eBooks
Works count: 24
Citation count: 78
H-index: 6
I10-index: 3
Year
Topic
Type