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

by Kevin E. Glinton, Sarah H. Elsea
Published 2019-09-01

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

by Sureni V. Mullegama, Joseph T. Alaimo, Li Chen, Sarah H. Elsea
Published 2015-04-01

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

by Joseph T Alaimo, Natalie C Hahn, Sureni V Mullegama, Sarah H Elsea
Published 2014-01-01

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

by Kevin E. Glinton, Harvey L. Levy, Adam D. Kennedy, Kirk L. Pappan, Sarah H. Elsea
Published 2019-03-01

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

by Lillian R Thistlethwaite, Varduhi Petrosyan, Xiqi Li, Marcus J Miller, Sarah H Elsea, Aleksandar Milosavljevic
Published 2021-01-01

Sphingolipid Metabolism Perturbations in Rett Syndrome

by Gerarda Cappuccio, Taraka Donti, Michele Pinelli, Pia Bernardo, Carmela Bravaccio, Sarah H. Elsea, Nicola Brunetti-Pierri
Published 2019-10-01

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

by Olivia J. Veatch, Merlin G. Butler, Sarah H. Elsea, Beth A. Malow, James S. Sutcliffe, Jason H. Moore
Published 2020-11-01

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

by Azam Yazdani, Akram Yazdani, Sarah H. Elsea, Daniel J. Schaid, Michael R. Kosorok, Gita Dangol, Ahmad Samiei
Published 2019-05-01

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

by Martin Stofanko, Joan C. Han, Sarah H. Elsea, Heloísa B. Pena, Higgor Gonçalves-Dornelas, Sérgio Danilo Junho Pena
Published 2013-01-01

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

by Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins‐Furman, Beverly Nelson, Andrew K. Sobering, Sarah H. Elsea
Published 2021-01-01

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

by Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering
Published 2020-08-01

Lysinuric protein intolerance presenting with multiple fractures

by Jennifer E. Posey, Lindsay C. Burrage, Marcus J. Miller, Pengfei Liu, Matthew T. Hardison, Sarah H. Elsea, Qin Sun, Yaping Yang, Alecia S. Willis, Alan E. Schlesinger, Carlos A. Bacino, Brendan H. Lee
Published 2014-01-01

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

by Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi
Published 2021-05-01

Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression

by Yiu Huen Tsang, Yumeng Wang, Kathleen Kong, Caitlin Grzeskowiak, Oksana Zagorodna, Turgut Dogruluk, Hengyu Lu, Nicole Villafane, Venkata Hemanjani Bhavana, Daniela Moreno, Sarah H Elsea, Han Liang, Gordon B Mills, Kenneth L Scott
Published 2020-04-01

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

by Francis P. Pankowicz, Mercedes Barzi, Xavier Legras, Leroy Hubert, Tian Mi, Julie A. Tomolonis, Milan Ravishankar, Qin Sun, Diane Yang, Malgorzata Borowiak, Pavel Sumazin, Sarah H. Elsea, Beatrice Bissig-Choisat, Karl-Dimiter Bissig
Published 2016-08-01

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

by Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Published 2017-01-01

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

by Melanie A. Jones, Sami Amr, Aerial Ferebee, Phung Huynh, Jill A. Rosenfeld, Michael F. Miles, Andrew G. Davies, Christopher A. Korey, John M. Warrick, Rita Shiang, Sarah H. Elsea, Santhosh Girirajan, Mike Grotewiel
Published 2014-04-01

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

by Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea
Published 2020-01-01

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

by Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea
Published 2019-05-01

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

by Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Published 2016-09-01