Rare variants create synthetic genome-wide associations.

by Samuel P Dickson, Kai Wang, Ian Krantz, Hakon Hakonarson, David B Goldstein
Published 2010-01-01

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

by James M. Havrilla, Anbumalar Singaravelu, Dennis M. Driscoll, Leonard Minkovsky, Ingo Helbig, Livija Medne, Kai Wang, Ian Krantz, Bimal R. Desai
Published 2022-07-01

P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period

by Emma Bedoukian, Sara Reichert, Elizabeth DeChene, Alexandra Heck, Jennifer Hershey, Morgan McManus, Michelle Marchese, Surabhi Mulchandani, Francis Jeshira Reynoso Santos, K. Taylor Wild, Kathleen Wood, Laura Conlin, Matthew Dulik, Ramakrishnan Rajagopalan, Nancy Spinner, Ian Krantz
Published 2024-01-01

Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.

by Bin Zhang, Jufang Chang, Ming Fu, Jie Huang, Rakesh Kashyap, Ezequiel Salavaggione, Sanjay Jain, Shashikant Kulkarni, Matthew A Deardorff, Maria L Giovannucci Uzielli, Dale Dorsett, David C Beebe, Patrick Y Jay, Robert O Heuckeroth, Ian Krantz, Jeffrey Milbrandt
Published 2009-01-01

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies.

by Bin Zhang, Jufang Chang, Ming Fu, Jie Huang, Rakesh Kashyap, Ezequiel Salavaggione, Sanjay Jain, Shashikant Kulkarni, Matthew A. Deardorff, Maria L. Giovannucci Uzielli, Dale Dorsett, David C. Beebe, Patrick Y. Jay, Robert O. Heuckeroth, Ian Krantz, Jeffrey Milbrandt
Published 2009-01-01

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

by Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Published 2024-03-01

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

A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing

by Han, Paul K. J., Umstead, Kendall L., Bernhardt, Barbara A., Green, Robert C., Joffe, Steven, Koenig, Barbara, Krantz, Ian, Waterston, Leo B., Biesecker, Leslie G., Biesecker, Barbara B.
Published 2017