Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

by Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York, Jerome F. Strauss
Published 2018-10-01

Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premat...

by Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Piya Chaemsaithong, Nihar U Sheth, Timothy P York, Roberto Romero, Jerome F Strauss
Published 2017-01-01

Human DENND1A.V2 Drives <i>Cyp17a1</i> Expression and Androgen Production in Mouse Ovaries and Adrenals

by Maria E. Teves, Bhavi P. Modi, Rewa Kulkarni, Angela X. Han, Jamaia S. Marks, Mark A. Subler, Jolene Windle, Jordan M. Newall, Jan M. McAllister, Jerome F. Strauss
Published 2020-04-01

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

by Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey
Published 2021-01-01

Adult GAMT deficiency: A literature review and report of two siblings

by Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Published 2021-06-01