<i>SRSF1</i> haploinsufficiency drives the neurodevelopmental phenotype of the 17q22 deletion syndrome. [PDF]
Front Med (Lausanne)Wu Y +5 more
europepmc +1 more source
Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Clinical Genetics, Volume 109, Issue 6, Page 1029-1037, June 2026.Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji +4 more
wiley +1 more source
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]
BiomedicinesHu J +6 more
europepmc +1 more source
The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity
Journal of Neurochemistry, Volume 170, Issue 6, June 2026.To survive a lifetime, neurons depend on a high‐fidelity logistics network powered by microtubule motors. We explore how a broad spectrum of genetic defects in this machinery drive a devastating spectrum of neurodevelopmental and neurodegenerative diseases, including Hereditary Spastic Paraplegia (HSP), Charcot–Marie‐Tooth Type 2 (CMT2), and ...
Emma D. Turner, Alison E. Twelvetrees
wiley +1 more source
Identification of De Novo <i>ZBTB18</i> Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies. [PDF]
Int J PediatrWu Y, Li B, Liu L, Wang Y, Li D.
europepmc +1 more source
Expanding congenital Zika syndrome: normocephalic infants with neurological and visual deficits. [PDF]
Ann Med Surg (Lond)Amjad A, Tameez-Ud-Din S, Segawa F.
europepmc +1 more source
Zika Virus and Congenital Zika Syndrome: Special Issue Editorial. [PDF]
Virusesda Silva Pone MV, Pone SM.
europepmc +1 more source
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival. [PDF]
NeurologySavvidou A +7 more
europepmc +1 more source
Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case. [PDF]
Genes (Basel)Samara AA +9 more
europepmc +1 more source
A Fully-Integrated Bayesian Approach for the Imputation and Analysis of Derived Outcome Variables With Missingness. [PDF]
Stat MedCampbell H, Morris TP, Gustafson P.
europepmc +1 more source