Needs management in families affected by childhood-onset dystrophinopathies

by Kristin M Conway, Katy Eichinger, Christina Trout, Paul A Romitti, Katherine D Mathews, Shree K Pandya
Published 2019-03-01

Trends in congenital clubfoot prevalence and co-occurring anomalies during 1994–2021 in Denmark: a nationwide register-based study

by Paula L. Hedley, Ulrik Lausten-Thomsen, Kristin M. Conway, Klaus Hindsø, Paul A. Romitti, Michael Christiansen
Published 2023-10-01

Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR<i>net</i>)

by Katherine D. Mathews, Kristin M. Conway, Amber M. Gedlinske, Nicholas Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni, Paul A. Romitti
Published 2021-09-01

Cancer risk in children and adolescents with birth defects: a population-based cohort study.

by Lorenzo D Botto, Timothy Flood, Julian Little, Mark N Fluchel, Sergey Krikov, Marcia L Feldkamp, Yuan Wu, Rhinda Goedken, Soman Puzhankara, Paul A Romitti
Published 2013-01-01

<i>TBX3</i> and <i>EFNA4</i> Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

by Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti
Published 2022-09-01

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

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

by Cristina M. Justice, Anthony M. Musolf, Araceli Cuellar, Wanda Lattanzi, Emil Simeonov, Radka Kaneva, Justin Paschall, Michael Cunningham, Andrew O. M. Wilkie, Alexander F. Wilson, Paul A. Romitti, Simeon A. Boyadjiev
Published 2022-05-01

Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects

by Jonathan Suhl, Kristin M Conway, Anthony Rhoads, Peter H Langlois, Marcia L Feldkamp, Adrian M Michalski, Jacob J Oleson, Alpa Sidhu, Vijaya Kancherla, John Obrycki, Maitreyi Mazumdar, Paul A Romitti, the National Birth Defects Prevention Study
Published 2023-03-01

Projected Changes in Maternal Heat Exposure During Early Pregnancy and the Associated Congenital Heart Defect Burden in the United States

by Wangjian Zhang, Tanya L. Spero, Christopher G. Nolte, Valerie C. Garcia, Ziqiang Lin, Paul A. Romitti, Gary M. Shaw, Scott C. Sheridan, Marcia L. Feldkamp, Alison Woomert, Syni‐An Hwang, Sarah C. Fisher, Marilyn L. Browne, Yuantao Hao, Shao Lin
Published 2019-02-01

Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.

by Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study
Published 2021-03-01

Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

by Anthony M. Musolf, Cristina M. Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R. Shaffer, Mary L. Marazita, Peter Claes, Seth M. Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L. Cunningham, Paul A. Romitti, Simeon A. Boyadjiev
Published 2024-04-01

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

by Seppe Goovaerts, Hanne Hoskens, Ryan J. Eller, Noah Herrick, Anthony M. Musolf, Cristina M. Justice, Meng Yuan, Sahin Naqvi, Myoung Keun Lee, Dirk Vandermeulen, Heather L. Szabo-Rogers, Paul A. Romitti, Simeon A. Boyadjiev, Mary L. Marazita, John R. Shaffer, Mark D. Shriver, Joanna Wysocka, Susan Walsh, Seth M. Weinberg, Peter Claes
Published 2023-11-01

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