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Anu Bashamboo
Affiliation : Centre National de la Recherche Scientifique · Institut Pasteur · Université Paris Cité · Biologie du Développement et Cellules Souches
- 24Publications (affiliation in France)
- 187Total publications
- 4755Citations
- 39h-index
Research profile
Anu Bashamboo has 24 indexed publications (2009–2025). Their work appears mainly in “Fertility and Sterility”, “Nature Communications” and “Frontiers in Genetics”. Their most cited article, “Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1” (2010), has been cited 253 times. 6 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Algeria, Tunisia, Thailand, Morocco.
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Create my free profile Add my publicationsResearch areas
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Sperm and Testicular Function
- Urological Disorders and Treatments
- Genomics and Rare Diseases
Publications (24)
- Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX
- Evidence for NR2F2/COUP-TFII involvement in human testis development
- Evidence for NR2F2 /COUP-TFII involvement in human testis development
- Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
- Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
- Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
- Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort
- Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37
- Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
- Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
- ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
- Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
- A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
- Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
- Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
- Identification of a Novel Mutation ofLAMB3Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
- Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
- A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
- Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
- Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility
- Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion
- Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1
- Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1
- Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
Publication venues
- Fertility and Sterility × 3
- Nature Communications × 2
- Frontiers in Genetics × 2
- Sexual Development × 2
- PLoS ONE × 2
- The American Journal of Human Genetics × 2
Publications per year
- 20251
- 20242
- 20233
- 20221
- 20212
- 20191
- 20182
- 20174
- 20161
- 20151
Collaborations
Partner institutions : Assistance Publique – Hôpitaux de Paris · Université Pierre-et-Marie-Curie · Génétique et biologie du développement · Inserm · Hôpital Armand-Trousseau
Co-authors’ countries : Algeria · Tunisia · Thailand · Morocco
Co-authors
- Ken McElreavey
- Joëlle Bignon‐Topalovic
- Housna Zidoune
- Raja Brauner
- Maëva Elzaïat
- Célia Ravel
- Somboon Wankanit
- Sophie Christin‐Maître
- Jean‐Pierre Siffroi
- Leïla T. S. Fusée
- Jacqueline Mandelbaum
- Mathieu Milh
Bibliographic data from OpenAlex (open database).
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