Publications

Featured Publications

• Paucity and disparity of publicly available sex-disaggregated data for the COVID-19 epidemic hamper evidence-based decision-making

  Kocher K, Delot-Vilain A, Spence D, LoTempio J, Délot EC, in press in Archives of Sexual Behavior Arch Sex Behav DOI: 10.1007/s10508-020-01882-w January (2021)

• Characterization of differential patterns of DNA methylation associated with stress during pregnancy

  Kocher K, Bhattacharya S, Quistorff J, Almalvez M, Niforatos-Andescavage N, Vilain E, Limperopoulos C, Délot EC. American Society of Human Genetics Abstract #2020-A-1316 October (2020)

• nanotatoR: A tool for enhanced annotation of genomic structural variants

  Bhattacharya S, Barseghyan H, Délot EC, Vilain E BMC Genomics DOI: 10.1101/2020.08.18.254680 August (2020)

• We can do better: Lessons learned on data-sharing in COVID-19 pandemic can inform future outbreak preparedness and response

  LoTempio J, Spencer D, Yarvitz R, Delot-Vilain A, Vilain E, Délot EC. Science & Diplomacy Vol. 9, No. 2 June (2020)

• Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States

  Speiser, P.W.; Chawla, R.; Chen, M.; Diaz-Thomas, A.; Finlayson, C.; Rutter, M.M.; Sandberg, D.E.; Shimy, K.; Talib, R.; Cerise, J.; Vilain, E.; Délot, E.C. Int. J. Neonatal Screen 6(2), 37 DOI: 10.3390/ijns6020037 May (2020)

• Translating genomics to the clinical diagnosis of disorders/differences of sex development

  Parivesh A, Barseghyan H, Délot E, Vilain E. Curr Top Dev Biol. 134:317-375. DOI: 10.1016/bs.ctdb.2019.01.005. March (2020)

• New technologies to uncover the molecular basis of disorders of sex development

  Barseghyan, E. Délot, E. Vilain Mol. Cell. Endocrinol. 468:60-69 June (2018)

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

  Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura E, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Emmanuèle Délot, *Harley V and *Vilain E. Biol. Sex Differ. 9:8 January (2018)

• Next-Generation Mapping (NGM): A novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

  Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Emmanuèle C. Délot, Nelson SF and Vilain E. PMID: 29070057 Genome Medicine 9(1) October (2017)

• Disorders of sex development (DSD): Clinical service delivery in the United States

  Aimee M. Rolston, Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach, Catherine Keegan, Emmanuele Delot, Eric Vilain, David E. Sandberg, members of the DSD-TRN Advocacy Advisory Network, and Accord Alliance Am J Medical Genetics 175:268-278. DOI: 10.1002/ajmg.c.31558 May (2017)

• Genetics of disorders of sex development: The DSD-TRN experience

  Délot EC, Papp JC; DSD-TRN Genetics Workgroup, Sandberg DE, Vilain E. PMID: 28476235; PMCID: PMC5714504 Endocrinol Metab Clin North Am 46(2):519-537. DOI: 10.1016/j.ecl.2017.01.015 March (2017)

• Non-syndromic 46,XX testicular disorders of sex development

  Emmanuèle C Délot, PhD and Eric J Vilain, MD, PhD, FACMG. GeneReviews October (2003)