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

by Mullegama, Sureni V, Elsea, Sarah H
Published 2014

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

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

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

by Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.
Published 2015

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

by Alaimo, Joseph T., Hahn, Natalie H., Mullegama, Sureni V., Elsea, Sarah H.
Published 2014

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

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

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

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

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

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

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

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

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

by Miller, Marcus J., Kennedy, Adam D., Eckhart, Andrea D., Burrage, Lindsay C., Wulff, Jacob E., Miller, Luke A.D., Milburn, Michael V., Ryals, John A., Beaudet, Arthur L., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.
Published 2015

Lysinuric protein intolerance presenting with multiple fractures

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