Beverly S Emanuel

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 7

Top Topics

Preterm Infants

Top Venues

NPJ genomic medicine

PLoS computational biology

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants, Erika Souche, Ruben Cools, Tracy Heung, Koen Devriendt, Hilde Peeters, Donna M McDonald-McGinn, Ann Swillen, Jeroen Breckpot, Beverly S Emanuel, Hilde Van Esch, Anne Susan Bassett, Joris Robert Vermeesch
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome. bioRxiv : the preprint server for biology (2024)
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Daniel E McGinn, Oanh T Tran, Daniella Miller, Jhih-Rong Lin, Elaine H Zackai, H Richard Johnston, Eva W C Chow, Jacob A S Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris Robert Vermeesch, Stephan Eliez, Maude Schneider, Marianne B M van den Bree, Michael J Owen, Wendy R Kates, Gabriela M Repetto, Vandana Shashi, Kelly Schoch, Carrie E Bearden, M Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C Murphy, Declan G M Murphy, Sixto García-Miñaúr, Luis Fernández, null null, Zhengdong D Zhang, Elizabeth Goldmuntz, Raquel E Gur, Beverly S Emanuel, Deyou Zheng, Christian R Marshall, Anne Susan Bassett, Tao Wang, Bernice E Morrow
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. NPJ genomic medicine 8 (1) (2023)
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, Terrence Blaine Crowley, Victoria Giunta, Daniel E McGinn, Elaine H Zackai, Oanh Tran, Beverly S Emanuel, Donna M McDonald-McGinn, Beata A Nowakowska
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. Genes 14 (3) (2023)
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, Terrence Blaine Crowley, Victoria Giunta, Daniel E McGinn, Elaine H Zackai, Oanh Tran, Beverly S Emanuel, Donna M McDonald-McGinn, Beata A Nowakowska
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. Genes 14 (3) (2023)
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, Terrence Blaine Crowley, Victoria Giunta, Daniel E McGinn, Elaine H Zackai, Oanh Tran, Beverly S Emanuel, Donna M McDonald-McGinn, Beata A Nowakowska
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. Genes 14 (3) (2023)
Larry N Singh, Brian M Ennis, Bryn Loneragan, Noah L Tsao, M Isabel G Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A Trounce, Yuankun Zhu, Prasanth Potluri, null null, Beverly S Emanuel, Daniel James Rader, Zoltan Arany, Scott M Damrauer, Adam C Resnick, Stewart A Anderson, Douglas C Wallace
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. PLoS computational biology 17 (11) (2021)
Frederick R Bieber, Athena M Cherry, Beverly S Emanuel, Uta Francke, H Eugene Hoyme, Laird G Jackson, Cynthia C Morton, Maximillian Muenke, Cynthia M Powell, Hope H Punnett, P Nagesh Rao, Stuart Schwartz, Roger E Stevenson, Daniel L Van Dyke
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics. Genetics in medicine : official journal of the American College of Medical Genetics 19 (3) (2016)