Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

by Benjamin M. Helm, Stephanie M. Ware
Published 2024-04-01

Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature

by Benjamin M. Helm, Benjamin J. Landis, Stephanie M. Ware
Published 2021-08-01

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

by Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis
Published 2017-07-01

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

by Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm
Published 2018-03-01

Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

by Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline C. Hoover, Matthew D. Durbin, Lindsey R. Elmore, Manyan Huang, Michael Johansen, Ming Li, Leon F. Przybylowski, Gabrielle C. Geddes, Stephanie M. Ware
Published 2022-10-01

A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

by Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware
Published 2023-01-01

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

by Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Published 2024-04-01