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Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.
American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
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