• 2024
  Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K, A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
• 2023
  Gonen N, Eozenou C, Mitter R, Elzaiat M, Stévant I, Aviram R, Bernardo AS, Chervova A, Wankanit S, Frachon E, Commère PH, Brailly-Tabard S, Valon L, Barrio Cano L, Levayer R, Mazen I, Gobaa S, Smith JC, McElreavey K, Lovell-Badge R, Bashamboo A, , In vitro cellular reprogramming to model gonad development and its disorders., Sci Adv 2023 Jan; 9(1): eabn9793.
• 2022
  Globa E, Zelinska N, Shcherbak Y, Bignon-Topalovic J, Bashamboo A, MсElreavey K, , Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
• 2021
  Globa E, Zelinska N, Siryk N, Bashamboo A, McElreavey K, Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
• 2021
  Zidoune H, Martinerie L, Tan DS, Askari M, Rezgoune D, Ladjouze A, Boukri A, Benelmadani Y, Sifi K, Abadi N, Satta D, Rastari M, Seresht-Ahmadi M, Bignon-Topalovic J, Mazen I, Leger J, Simon D, Brauner R, Totonchi M, Jauch R, Bashamboo A, McElreavey K, Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
• 2021
  Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K, , Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
• 2015
  Murphy MW, Lee JK, Rojo S, Gearhart MD, Kurahashi K, Banerjee S, Loeuille GA, Bashamboo A, McElreavey K, Zarkower D, Aihara H, Bardwell VJ, An ancient protein-DNA interaction underlying metazoan sex determination, Nat. Struct. Mol. Biol. 2015 Jun;22(6):442-51.
• 2015
  Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R, Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis, Fertil. Steril. 2015 May;103(5):1297-304.
• 2014
  Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP, Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy, Nat. Genet. 2014 Dec;46(12):1283-92.
• 2014
  Bashamboo A, McElreavey K, Consanguinity and disorders of sex development, Hum. Hered. 2014;77(1-4):108-17.
• 2014
  Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K, Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination, Hum. Mol. Genet. 2014 Jul;23(14):3657-65.
• 2013
  Montjean D, Ravel C, Benkhalifa M, Cohen-Bacrie P, Berthaut I, Bashamboo A, McElreavey K, Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome, Fertil. Steril. 2013 Nov;100(5):1241-7.
• 2011
  Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A, Loss-of-function mutation in GATA4 causes anomalies of human testicular development, Proc. Natl. Acad. Sci. U.S.A. 2011 Jan;108(4):1597-602.
• 2011
  McElreavey K, Bashamboo A, Genetic disorders of sex differentiation, Adv. Exp. Med. Biol. 2011;707:91-9.
• 2010
  Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K, Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1, Am. J. Hum. Genet. 2010 Oct;87(4):505-12.
• 2009
  Bashamboo A, Ravel C, Brauner R, McElreavey K, [NR5A1 and ovarian failure], Med Sci (Paris) 2009 Oct;25(10):809-13.
• 2009
  Ravel C, Chantot-Bastaraud S, Chalmey C, Barreiro L, Aknin-Seifer I, Pfeffer J, Berthaut I, Mathieu EE, Mandelbaum J, Siffroi JP, McElreavey K, Bashamboo A, Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts, PLoS ONE 2009;4(8):e6540.
• 2009
  Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A, Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility, Fertil. Steril. 2009 Oct;92(4):1347-50.
• 2009
  Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A, Mutations in NR5A1 associated with ovarian insufficiency, N. Engl. J. Med. 2009 Mar;360(12):1200-10.