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The New England Journal of Medicine|August 14, 2020
Purifying Selection against Pathogenic Mitochondrial DNA in Human T CellsMelissa A Walker, Caleb A Lareau, Leif S Ludwig, et al.
JIMD Reports|February 4, 2026
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase DeficiencyAaron B Bowen, Chiadika Nwanze, Cesar Alves, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 16, 2011
Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca²+-free interdomain linkersXiangshu Jin, Melissa A Walker, Klára Felsövályi, et al.
Journal of Child Neurology|April 21, 2016
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked DiseaseMelissa A Walker, Kyle P Mohler, Kyle W Hopkins, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
A <i>de novo</i> missense variant in <i>EZH1</i> associated with developmental delay exhibits functional deficits in <i>Drosophila melanogaster</i>Sharayu Jangam, Lauren C Briere, Kristy Jay, et al.
American Journal of Medical Genetics. Part A|July 26, 2024
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic dietAaron B Bowen, Otto Rapalino, Camilo Jaimes, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Journal of the Endocrine Society|February 23, 2026
Exploratory assessment of preconception phthalate exposure on pregnancy and offspring health outcomes in miceMaryam Afghah, Ansley C Elkins, Paige C Powell, et al.
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
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