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European Journal of Human Genetics : EJHG|January 23, 2023
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disordersQifei Li, Rohan Agrawal, Klaus Schmitz-Abe, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Human Molecular Genetics|August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic featuresZhigang Liu, Baozhong Xin, Iris N Smith, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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