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Journal of Medical Genetics|September 26, 2024
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypesJoery den Hoed, Hirokazu Hashimoto, Mubeen Khan, et al.Cell Reports|July 28, 2015
miR-302 Is Required for Timing of Neural Differentiation, Neural Tube Closure, and Embryonic ViabilityRonald J Parchem, Nicole Moore, Jennifer L Fish, et al.Human Molecular Genetics|February 18, 2021
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, et al.American Journal of Medical Genetics. Part A|April 18, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencingYuri A Zarate, Hazel Perry, Tawfeg Ben-Omran, et al.Proceedings of the National Academy of Sciences of the United States of America|September 9, 2010
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germlineJeremy N Pulvers, Jarosław Bryk, Jennifer L Fish, et al.Nature Communications|December 8, 2017
Developmental nonlinearity drives phenotypic robustnessRebecca M Green, Jennifer L Fish, Nathan M Young, et al.Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.European Journal of Medical Genetics|November 29, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanismAditi Gupta, Nikita R Dsouza, Yuri A Zarate, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation frameworkEnyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.Pageof 12