nanotatoR: a tool for enhanced annotation of genomic structural variants

by Surajit Bhattacharya, Hayk Barseghyan, Emmanuèle C. Délot, Eric Vilain
Published 2021-01-01

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

by Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson, Eric Vilain
Published 2017-10-01

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

by Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain
Published 2018-01-01

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

by Phyllis W. Speiser, Reeti Chawla, Ming Chen, Alicia Diaz-Thomas, Courtney Finlayson, Meilan M. Rutter, David E. Sandberg, Kim Shimy, Rashida Talib, Jane Cerise, Eric Vilain, Emmanuèle C. Délot, on behalf of the Disorders/Differences of Sex Development-Translational Research Network (DSD-TRN)
Published 2020-05-01