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Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
American Journal of Human Genetics|January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathyHeba Morsy, Hyeonho Kim, Gyubin Jang, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Annals of Clinical and Translational Neurology|October 18, 2022
Phenotypic continuum of NFU1-related disordersRauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
Human Genetics|May 14, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, et al.
American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
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