Editorial: Insights in neurogenomics: 2022

por Gandhi, Aayushi, Elsea, Sarah H.
Publicado 2023

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

por Mullegama, Sureni V, Elsea, Sarah H
Publicado 2014

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions

por Glinton, Kevin E., Elsea, Sarah H.
Publicado 2019

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

por Truong, Hoa T, Dudding, Tracy, Blanchard, Christopher L, Elsea, Sarah H
Publicado 2010

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

por Mullegama, Sureni V., Alaimo, Joseph T., Chen, Li, Elsea, Sarah H.
Publicado 2015

Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

por Alaimo, Joseph T., Hahn, Natalie H., Mullegama, Sureni V., Elsea, Sarah H.
Publicado 2014

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis

por Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.
Publicado 2015

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1

por Glinton, Kevin E., Levy, Harvey L., Kennedy, Adam D., Pappan, Kirk L., Elsea, Sarah H.
Publicado 2018

CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

por Thistlethwaite, Lillian R., Petrosyan, Varduhi, Li, Xiqi, Miller, Marcus J., Elsea, Sarah H., Milosavljevic, Aleksandar
Publicado 2021

Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

por Thistlethwaite, Lillian R., Petrosyan, Varduhi, Li, Xiqi, Miller, Marcus J., Elsea, Sarah H., Milosavljevic, Aleksandar
Publicado 2021

Association of Glucose-6-Phosphate Dehydrogenase Deficiency With Outcomes in US Veterans With COVID-19

por Elsea, Sarah H., Razjouyan, Javad, Lee, Kyung Min, Lynch, Julie A., Martini, Sharyl, Pandit, Lavannya M.
Publicado 2023

Sphingolipid Metabolism Perturbations in Rett Syndrome

por Cappuccio, Gerarda, Donti, Taraka, Pinelli, Michele, Bernardo, Pia, Bravaccio, Carmela, Elsea, Sarah H., Brunetti-Pierri, Nicola
Publicado 2019

Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics

por Yazdani, Azam, Yazdani, Akram, Elsea, Sarah H., Schaid, Daniel J., Kosorok, Michael R., Dangol, Gita, Samiei, Ahmad
Publicado 2019

Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis

por Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.
Publicado 2020

An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder

por Veatch, Olivia J., Butler, Merlin G., Elsea, Sarah H., Malow, Beth A., Sutcliffe, James S., Moore, Jason H.
Publicado 2020

Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method

por Stofanko, Martin, Han, Joan C., Elsea, Sarah H., Pena, Heloísa B., Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho
Publicado 2013

Sickle cell disease in Grenada: Quality of life and barriers to care

por Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
Publicado 2020

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

por Milosavljevic, Sofia, Glinton, Kevin E., Li, Xiqi, Medeiros, Cláudia, Gillespie, Patrick, Seavitt, John R., Graham, Brett H., Elsea, Sarah H.
Publicado 2022

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

por Lacaria, Melanie, Saha, Pradip, Potocki, Lorraine, Bi, Weimin, Yan, Jiong, Girirajan, Santhosh, Burns, Brooke, Elsea, Sarah, Walz, Katherina, Chan, Lawrence, Lupski, James R., Gu, Wenli
Publicado 2012

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

por Liu, Ning, Xiao, Jing, Gijavanekar, Charul, Pappan, Kirk L., Glinton, Kevin E., Shayota, Brian J., Kennedy, Adam D., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.
Publicado 2021