Sarah H. Elsea

2004-2013 Human Genetics Virginia Commonwealth University, Richmond, VA, United States 
 2013- Molecular and Human Genetics Baylor College of Medicine, Houston, TX 
Genetics, Molecular Biology, Human Genetics, Metabolism
"Sarah Elsea"
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McGee SR, Rajamanickam S, Adhikari S, et al. (2022) Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human Molecular Genetics
Calame DG, Herman I, Maroofian R, et al. (2022) Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Annals of Neurology
Marafi D, Fatih JM, Kaiyrzhanov R, et al. (2021) Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a Journal of Neurology
Mullegama SV, Klein SD, Williams SR, et al. (2021) Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports. 11: 11295
Wakeling E, McEntagart M, Bruccoleri M, et al. (2021) Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. Hgg Advances. 2: 100015
Veatch OJ, Butler MG, Elsea SH, et al. (2020) An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. International Journal of Molecular Sciences. 21
Pillai NR, Amin H, Gijavanekar C, et al. (2020) Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. American Journal of Medical Genetics. Part A
Gandhi A, Zhou D, Alaimo J, et al. (2020) Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD. Journal of Autism and Developmental Disorders
Shayota BJ, Donti TR, Xiao J, et al. (2020) Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Molecular Genetics and Metabolism
Thompson W, Carey PZ, Donald T, et al. (2020) Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Molecular Genetics & Genomic Medicine. e1318
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