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European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.Human Mutation|April 14, 2025
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of SYN1-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.Pageof 3