Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

by Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield
Published 2019-11-01

Maternal genome-wide DNA methylation patterns and congenital heart defects.

by Shimul Chowdhury, Stephen W Erickson, Stewart L MacLeod, Mario A Cleves, Ping Hu, Mohammad A Karim, Charlotte A Hobbs
Published 2011-01-01

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

by Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Published 2020-06-01

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

by Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury
Published 2021-07-01

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

by Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Published 2021-05-01

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

by Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte Hobbs, David Dimmock, Stephen F. Kingsmore
Published 2021-05-01

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

by Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Published 2019-02-01