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American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.European Journal of Human Genetics : EJHG|May 1, 2018
Comprehensive genomic analysis of patients with disorders of cerebral cortical developmentWojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, et al.American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.Genes|December 24, 2021
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital MicrocephalyMateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, et al.Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.Pageof 2