nanotatoR: a tool for enhanced annotation of genomic structural variants

por Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
Publicado 2021

Paucity and Disparity of Publicly Available Sex-Disaggregated Data for the COVID-19 Epidemic Hamper Evidence-Based Decision-Making

por Kocher, Kristen, Delot-Vilain, Arthur, Spencer, D’Andre, LoTempio, Jonathan, Délot, Emmanuèle C.
Publicado 2021

Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic

por Kocher, Kristen, Bhattacharya, Surajit, Niforatos-Andescavage, Nickie, Almalvez, Miguel, Henderson, Diedtra, Vilain, Eric, Limperopoulos, Catherine, Délot, Emmanuèle C.
Publicado 2023

SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Networ...

por Speiser, Phyllis, Chawla, Reeti, Chen, Ming, Delot, Emmanuele, Thomas, Alicia, Finlayson, Courtney, Hollander, Abby, Lowell, Michael, Rutter, Meilan, Sandberg, David, Shimy, Kim, Vilain, Eric
Publicado 2019

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

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

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

por Speiser, Phyllis W., Chawla, Reeti, Chen, Ming, Diaz-Thomas, Alicia, Finlayson, Courtney, Rutter, Meilan M., Sandberg, David E., Shimy, Kim, Talib, Rashida, Cerise, Jane, Vilain, Eric, Délot, Emmanuèle C.
Publicado 2020

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

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

“Development and Implementation of Novel Chatbot-based Genomic Research Consent”

por Smith, Erica D., Savage, Sarah K., Andrew, E. Hallie, Martin, Gloria Mas, Kahn-Kirby, Amanda H., LoTempio, Jonathan, Délot, Emmanuèle, Cohen, Andrea J., Pitsava, Georgia, Berger, Seth, Fusaro, Vincent A., Vilain, Eric
Publicado 2023

Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

por Arboleda, Valerie A., Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C., Rodriguez-Fernandez, Imilce A., Braslavsky, Debora, Bergadá, Ignacio, Dell’Angelica, Esteban C., Nelson, Stanley F., Martinez-Agosto, Julian A., Achermann, John C., Vilain, Eric
Publicado 2012

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

por Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O’Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Publicado 2023