Sarah H. Elsea
Affiliations: | 2004-2013 | Human Genetics | Virginia Commonwealth University, Richmond, VA, United States |
2013- | Molecular and Human Genetics | Baylor College of Medicine, Houston, TX |
Area:
Genetics, Molecular Biology, Human Genetics, MetabolismGoogle:
"Sarah Elsea"Parents
Sign in to add mentorNeil Osheroff | grad student | 1990-1994 | Vanderbilt University School of Medicine (Chemistry Tree) |
William E. O'Brien | post-doc | 1995-1998 | Baylor College of Medicine |
Pragna I Patel | post-doc | 1995-1998 | Baylor College of Medicine |
Children
Sign in to add traineeStephen R Williams | grad student | VCU School of Medicine | |
Rebecca Slager | grad student | 1999-2003 | Michigan State |
Christopher N. Vlangos | grad student | 2000-2005 | Michigan State (Cell Biology Tree) |
Santhosh Girirajan | grad student | 2003-2008 | VCU School of Medicine |
Sureni Mullegama | grad student | 2013 | VCU School of Medicine |
BETA: Related publications
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Publications
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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 |