Bibliotecas PUC-SP - Busca Integrada

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

von Benjamin M. Helm, Benjamin J. Landis, Stephanie M. Ware
Veröffentlicht in Genes (2021-08-01)

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

von Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis
Veröffentlicht in Human Genomics (2017-07-01)

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

von Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm
Veröffentlicht in Molecular Cytogenetics (2018-03-01)

Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery

von Benjamin J. Landis, Benjamin M. Helm, Matthew D. Durbin, Lindsey R. Helvaty, Jeremy L. Herrmann, Michael Johansen, Gabrielle C. Geddes, Stephanie M. Ware
Veröffentlicht in The Journal of Clinical Investigation (2024-09-01)

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing

von Benjamin M. Helm, Lindsey R. Helvaty, Erin Conboy, Gabrielle C. Geddes, Brett H. Graham, Melissa Lah, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware
Veröffentlicht in Molecular Genetics & Genomic Medicine (2024-11-01)

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

von 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
Veröffentlicht in Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (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

von 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
Veröffentlicht in Genetics in Medicine Open (2023-01-01)

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

von 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
Veröffentlicht in HGG Advances (2024-04-01)