New Technologies to Uncover the Molecular Basis of Disorders of Sex Development

por Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
Publicado en Mol Cell Endocrinol (2018)

Translating genomics to the clinical diagnosis of Disorders/Differences of Sex Development

por Parivesh, Abhinav, Barseghyan, Hayk, Délot, Emmanuèle, Vilain, Eric
Publicado en Curr Top Dev Biol (2019)

nanotatoR: a tool for enhanced annotation of genomic structural variants

por Bhattacharya, Surajit, Barseghyan, Hayk, Délot, Emmanuèle C., Vilain, Eric
Publicado en BMC Genomics (2021)

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses

por Sahajpal, Nikhil Shri, Barseghyan, Hayk, Kolhe, Ravindra, Hastie, Alex, Chaubey, Alka
Publicado en Genes (Basel) (2021)

Regulation of Sex Determination in Mice by a Non-coding Genomic Region

por Arboleda, Valerie A., Fleming, Alice, Barseghyan, Hayk, Délot, Emmanuèle, Sinsheimer, Janet S., Vilain, Eric
Publicado 2014

MAP3K1-related Gonadal Dysgenesis: Six new cases and review of the literature

por Granados, Andrea, Alaniz, Veronica I., Mohnach, Lauren, Barseghyan, Hayk, Vilain, Eric, Ostrer, Harry, Quint, Elisabeth H., Chen, Ming, Keegan, Catherine E.
Publicado en Am J Med Genet C Semin Med Genet (2017)

The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance

por Chen, Xuqi, Williams-Burris, Shayna M, McClusky, Rebecca, Ngun, Tuck C, Ghahramani, Negar, Barseghyan, Hayk, Reue, Karen, Vilain, Eric, Arnold, Arthur P
Publicado 2013

Long reads capture simultaneous enhancer–promoter methylation status for cell-type deconvolution

por Margalit, Sapir, Abramson, Yotam, Sharim, Hila, Manber, Zohar, Bhattacharya, Surajit, Chen, Yi-Wen, Vilain, Eric, Barseghyan, Hayk, Elkon, Ran, Sharan, Roded, Ebenstein, Yuval
Publicado en Bioinformatics (2021)

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

por Bramble, Matthew S., Roach, Lara, Lipson, Allen, Vashist, Neerja, Eskin, Ascia, Ngun, Tuck, Gosschalk, Jason E., Klein, Steven, Barseghyan, Hayk, Arboleda, Valerie A., Vilain, Eric
Publicado en Sci Rep (2016)

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 en Genome Med (2017)

Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome

por Ngun, Tuck C., Ghahramani, Negar M., Creek, Michelle M., Williams-Burris, Shayna M., Barseghyan, Hayk, Itoh, Yuichiro, Sánchez, Francisco J., McClusky, Rebecca, Sinsheimer, Janet S., Arnold, Arthur P., Vilain, Eric
Publicado en Arch Sex Behav (2014)

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 en Biol Sex Differ (2018)

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

por Bramble, Matthew S., Goldstein, Ellen H., Lipson, Allen, Ngun, Tuck, Eskin, Ascia, Gosschalk, Jason E., Roach, Lara, Vashist, Neerja, Barseghyan, Hayk, Lee, Eric, Arboleda, Valerie A., Vaiman, Daniel, Yuksel, Zafer, Fellous, Marc, Vilain, Eric
Publicado en Hum Reprod (2016)

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

por Baxter, Ruth M., Arboleda, Valerie A., Lee, Hane, Barseghyan, Hayk, Adam, Margaret P., Fechner, Patricia Y., Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Mathew, Revi P., Stalker, Heather J., Zori, Roberto, Gordon, Ora K., Ramos-Platt, Leigh, Pawlikowska-Haddal, Anna, Eskin, Ascia, Nelson, Stanley F., Délot, Emmanuèle, Vilain, Eric
Publicado en J Clin Endocrinol Metab (2015)

Long-read single-molecule maps of the functional methylome

por Sharim, Hila, Grunwald, Assaf, Gabrieli, Tslil, Michaeli, Yael, Margalit, Sapir, Torchinsky, Dmitry, Arielly, Rani, Nifker, Gil, Juhasz, Matyas, Gularek, Felix, Almalvez, Miguel, Dufault, Brandon, Chandra, Sreetama Sen, Liu, Alexander, Bhattacharya, Surajit, Chen, Yi-Wen, Vilain, Eric, Wagner, Kathryn R., Pevsner, Jonathan, Reifenberger, Jeff, Lam, Ernest T., Hastie, Alex R., Cao, Han, Barseghyan, Hayk, Weinhold, Elmar, Ebenstein, Yuval
Publicado en Genome Res (2019)

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

por Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P., de Silva, KSH, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F., McElreavey, Ken, Achermann, John C.
Publicado en Hum Mol Genet (2016)

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

por Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P., de Silva, KSH, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F., McElreavey, Ken, Achermann, John C.
Publicado en Hum Mol Genet (2016)

PATH-14. GENETIC SUSCEPTIBILITY AND OUTCOMES OF PEDIATRIC, ADOLESCENT AND YOUNG ADULT IDH-MUTANT ASTROCYTOMAS

por Bornhorst, Miriam, Nobre, Liana, Zapotocky, Michal, Barseghyan, Hayk, Goecks, Jeremy, Boue, Daniel, Tabori, Uri, Hawkins, Cynthia, Bouffet, Eric, MacDonald, Tobey, Schniederjan, Matthew, Bronischer, Alberto, Orr, Brent, Solomon, David, Mueller, Sabine, Opocher, Enrico, Vortmeyer, Alexander, Marks, Asher, Koschmann, Carl, Leung, Denise Leung, Mody, Rajen, Hwang, Eugene, Bhattacharya, Surajit, Vilain, Eric, Turner, Joyce, Kilburn, Lindsay, Rood, Brian, Packer, Roger, Nazarian, Javad, Ho, Cheng-Ying
Publicado en Neuro Oncol (2020)