Impact of COVID-19 on newborn screening in South Texas

por Ward, Scott, Mackay, Laura Palmer, Sutton, V. Reid, Divin, Kristian
Publicado 2021

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

por Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Publicado 2016

Obstetrical Challenges in Robinow Syndrome

por Zhang, Yingao, Casanova, Marco, Shanahan, Matthew, Sutton, V. Reid, Fox, Karin
Publicado 2022

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

por Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Publicado 2013

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

Liver-Directed Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Lethal Murine Model of Citrullinemia Type 1

por Chandler, Randy J., Tarasenko, Tatiana N., Cusmano-Ozog, Kristina, Sun, Qin, Sutton, V. Reid, Venditti, Charles P., McGuire, Peter J.
Publicado 2013

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pil...

por Tosi, Laura L., Floor, Marianne K., Dollar, Christina M., Gillies, Austin P., Hart, Tracy S., Cuthbertson, David D., Sutton, V. Reid, Krischer, Jeffrey P.
Publicado 2019

Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

por McCann-Crosby, Bonnie, Liang, Mark C., Geffner, Mitchell E., Koppin, Christina M., Fraga, Nicole R., Sutton, V. Reid, Karaviti, Lefkothea P., Bhullar, Gagandeep, Kim, Mimi S.
Publicado 2023

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

Whole‐Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

por Jin, Zixue, Burrage, Lindsay C, Jiang, Ming‐Ming, Lee, Yi‐Chien, Bertin, Terry, Chen, Yuqing, Tran, Alyssa, Gibbs, Richard A, Jhangiani, Shalini, Sutton, V Reid, Rauch, Frank, Lee, Brendan, Jain, Mahim
Publicado 2018

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

por Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.
Publicado 2017

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team

por Douglas, Ganka, Axelrad, Marni E., Brandt, Mary L., Crabtree, Elizabeth, Dietrich, Jennifer E., French, Shannon, Gunn, Sheila, Karaviti, Lefkothea, Lopez, Monica E., Macias, Charles G., McCullough, Laurence B., Suresh, Deepa, Sutton, V. Reid
Publicado 2010

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

por McCann-Crosby, Bonnie, Mansouri, Roshanak, Dietrich, Jennifer E, McCullough, Laurence B, Sutton, V Reid, Austin, Elise G, Schlomer, Bruce, Roth, David R, Karaviti, Lefkothea, Gunn, Sheila, Hicks, M John, Macias, Charles G
Publicado 2014

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

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

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

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

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

por Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.
Publicado 2023

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

por 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.
Publicado 2015

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

por 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.
Publicado 2016

Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders

por Burrage, Lindsay C., Thistlethwaite, Lillian, Stroup, Bridget M., Sun, Qin, Miller, Marcus J., Nagamani, Sandesh CS, Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Graham, Brett, Kennedy, Adam D., Milosavljevic, Aleksandar, Lee, Brendan H., Elsea, Sarah H.
Publicado 2019

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

por Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Publicado 2013