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The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorderLettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.Pageof 22