• 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.
• 2020
  Batista L, Jouvion G, Simon-Chazottes D, Houzelstein D, Burlen-Defranoux O, Boissière M, Tokuda S, do Valle TZ, Cumano A, Flamand M, Montagutelli X, Panthier JJ, , Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis., Sci Rep 2020 May; 10(1): 8734.
• 2018
  Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R, , GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’, Eur. J. Endocrinol. 2018 10;179(4):R197-R206.
• 2018
  Sreenivasan R, Ludbrook L, Fisher B, Declosmenil F, Knower KC, Croft B, Bird AD, Ryan J, Bashamboo A, Sinclair AH, Koopman P, McElreavey K, Poulat F, Harley VR, Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer, Hum. Mutat. 2018 Dec;39(12):1861-1874.
• 2018
  Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A, ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
• 2018
  Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K, Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children, Am. J. Hum. Genet. 2018 03;102(3):487-493.
• 2017
  Naasse Y, Bakhchane A, Charoute H, Jennane F, Bignon-Topalovic J, Malki A, Bashamboo A, Barakat A, Rouba H, McElreavey K, A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD, Sex Dev 2017;11(5-6):269-274.
• 2017
  Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R, Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2017 07;102(7):2401-2406.
• 2017
  Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S, Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing, Ann Dermatol 2017 Apr;29(2):243-246.
• 2017
  Bashamboo A, Eozenou C, Rojo S, McElreavey K, Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development, Clin. Genet. 2017 02;91(2):143-156.
• 2016
  Bashamboo A, McElreavey K, Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development, Sex Dev 2016;10(5-6):313-325.
• 2016
  Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, , Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC, A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet. 2016 12;25(23):5286.
• 2016
  Brauner R, Picard-Dieval F, Lottmann H, Rouget S, Bignon-Topalovic J, Bashamboo A, McElreavey K, Familial forms of disorders of sex development may be common if infertility is considered a comorbidity, BMC Pediatr 2016 11;16(1):195.
• 2016
  Durand A, Bashamboo A, McElreavey K, Brauner R, Familial early puberty: presentation and inheritance pattern in 139 families, BMC Endocr Disord 2016 Sep;16(1):50.
• 2016
  Mazen I, Abdel-Hamid M, Mekkawy M, Bignon-Topalovic J, Boudjenah R, El Gammal M, Essawi M, Bashamboo A, McElreavey K, Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis, Sex Dev 2016;10(3):147-51.
• 2016
  Mazen I, Amin H, Kamel A, El Ruby M, Bignon-Topalovic J, Bashamboo A, McElreavey K, Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development, Sex Dev 2016;10(1):16-22.
• 2016
  Ben Hadj Hmida I, Mougou-Zerelli S, Hadded A, Dimassi S, Kammoun M, Bignon-Topalovic J, Bibi M, Saad A, Bashamboo A, McElreavey K, Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea, Fertil. Steril. 2016 07;106(1):225-229.e11.
• 2015
  Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R, A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2016 Jan;101(1):12-5.
• 2015
  Bashamboo A, McElreavey K, Human sex-determination and disorders of sex-development (DSD), Semin. Cell Dev. Biol. 2015 Sep;45:77-83.