Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

by Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Published 2021-11-01

Copy number variants in Ebstein anomaly.

by Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills
Published 2017-01-01

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

by Robert J Sicko, Marilyn L Browne, Shannon L Rigler, Charlotte M Druschel, Gang Liu, Ruzong Fan, Paul A Romitti, Michele Caggana, Denise M Kay, Lawrence C Brody, James L Mills
Published 2016-01-01

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

by Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell
Published 2022-10-01

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee.

by Taye H Hamza, Honglei Chen, Erin M Hill-Burns, Shannon L Rhodes, Jennifer Montimurro, Denise M Kay, Albert Tenesa, Victoria I Kusel, Patricia Sheehan, Muthukrishnan Eaaswarkhanth, Dora Yearout, Ali Samii, John W Roberts, Pinky Agarwal, Yvette Bordelon, Yikyung Park, Liyong Wang, Jianjun Gao, Jeffery M Vance, Kenneth S Kendler, Silviu-Alin Bacanu, William K Scott, Beate Ritz, John Nutt, Stewart A Factor, Cyrus P Zabetian, Haydeh Payami
Published 2011-08-01

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

by Idoia Martínez de LaPiscina, Laura C. Hernández-Ramírez, Nancy Portillo, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Itxaso Rica, Sonia Gaztambide, Sonia Gaztambide, Fabio R. Faucz, Margaret F. Keil, Maya B. Lodish, Maya B. Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, James L. Mills, Luis Castaño, Constantine A. Stratakis
Published 2020-07-01

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

by Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Published 2023-10-01