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American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.
Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
Glia|July 15, 2026
Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network DevelopmentImke M E Schuurmans, Annika Mordelt, Marta Guevara-Ferrer, et al.
Molecular Psychiatry|January 6, 2018
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophreniaFemke M de Vrij, Christian G Bouwkamp, Nilhan Gunhanlar, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
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