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Children (Basel, Switzerland)|May 28, 2022
Pulmonary Vein Stenosis Associated with Germline PIK3CA MutationDelphine Yung, Kaitlyn Freeman, Ghayda MirzaaDialogues in Clinical Neuroscience|April 3, 2019
From microcephaly to megalencephaly: determinants of brain sizeFilomena Pirozzi, Branden Nelson, Ghayda MirzaaAmerican Journal of Medical Genetics. Part A|April 23, 2018
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γAnju Shukla, Russell P Saneto, Malavika Hebbar, et al.The Journal of Biological Chemistry|September 23, 2023
Protein interaction network analysis of mTOR signaling reveals modular organizationDevin T Wehle, Carter S Bass, Josef Sulc, et al.Biorxiv : the Preprint Server for Biology|August 14, 2023
Protein interaction network analysis of mTOR signaling reveals modular organizationDevin T Wehle, Carter S Bass, Josef Sulc, et al.European Journal of Medical Genetics|June 9, 2018
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathwayChloe Stutterd, George McGillivray, Zornitza Stark, et al.Life Science Alliance|September 22, 2022
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domainDebora Tibbe, Pia Ferle, Christoph Krisp, et al.Genes & Development|June 15, 2018
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopiaWenying Angela Liu, She Chen, Zhizhong Li, et al.Human Genetics|January 3, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulationFabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto, et al.Clinical Genetics|September 8, 2022
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patientsMichelle Adutwum, Anna Hurst, Ghayda Mirzaa, et al.Pageof 5