Anu Bashamboo

Affiliations

Human Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France; anu.bashamboo@pasteur.fr.

Publications (26)

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (

Proceedings of the National Academy of Sciences of the United States of America

Avec: Caroline Eozenou , Nitzan Gonen , Maria Sol Touzon , Anne Jorgensen , Svetlana A Yatsenko , Leila Fusee , Alaa K Kamel , Balazs Gellen , Gabriela Guercio , Priti Singh , Selma Witchel , Andrea J Berman , Rana Mainpal , Mehdi Totonchi , Anahita Mohseni Meybodi , Masomeh Askari , Tiphanie Merel-Chali , Joelle Bignon-Topalovic , Roberta Migale , Mariana Costanzo , Roxana Marino , Pablo Ramirez , Natalia Perez Garrido , Esperanza Berensztein , Mona K Mekkawy , John C Schimenti , Rita Bertalan , Inas Mazen , Ken McElreavey , Alicia Belgorosky , Robin Lovell-Badge , Aleksandar Rajkovic , Anu Bashamboo

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Ken McElreavey , Anne Jorgensen , Caroline Eozenou , Tiphanie Merel , Joelle Bignon-Topalovic , Daisylyn Senna Tan , Denis Houzelstein , Federica Buonocore , Nick Warr , Raissa G G Kay , Matthieu Peycelon , Jean-Pierre Siffroi , Inas Mazen , John C Achermann , Yuliya Shcherbak , Juliane Leger , Agnes Sallai , Jean-Claude Carel , Laetitia Martinerie , Romain Le Ru , Gerard S Conway , Brigitte Mignot , Lionel Van Maldergem , Rita Bertalan , Evgenia Globa , Raja Brauner , Ralf Jauch , Serge Nef , Andy Greenfield , Anu Bashamboo

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

American journal of medical genetics. Part A

Avec: Inas Mazen , Mona Mekkawy , Alaa Kamel , Mona Essawi , Heba Hassan , Mohamed Abdel-Hamid , Khalda Amr , Hala Soliman , Mona El-Ruby , Ahmed Torky , Mona El Gammal , Aya Elaidy , Anu Bashamboo , Kenneth McElreavey

Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis.

Human reproduction (Oxford, England)

Avec: M G Yefimova , C Lefevre , A Bashamboo , C Eozenou , A Burel , M T Lavault , A C Meunier , C Pimentel , S Veau , A S Neyroud , S Jaillard , B Jégou , N Bourmeyster , C Ravel

A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Andrologia

Avec: Masomeh Askari , Mandana Rastari , Mehrshad Seresht-Ahmadi , Kenneth McElreavey , Anu Bashamboo , Maryam Razzaghy-Azar , Mehdi Totonchi

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Avec: Inas Mazen , Alaa Kamel , Kenneth McElreavey , Anu Bashamboo , Aya Elaidy , Mohamed S Abdel-Hamid

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Nature communications

Avec: Denis Houzelstein , Caroline Eozenou , Carlos F Lagos , Maëva Elzaiat , Joelle Bignon-Topalovic , Inma Gonzalez , Vincent Laville , Laurène Schlick , Somboon Wankanit , Prochi Madon , Jyotsna Kirtane , Arundhati Athalye , Federica Buonocore , Stéphanie Bigou , Gerard S Conway , Delphine Bohl , John C Achermann , Anu Bashamboo , Ken McElreavey

The TALE homeodomain of PBX1 is involved in human primary testis-determination.

Human mutation

Avec: Caroline Eozenou , Anu Bashamboo , Joelle Bignon-Topalovic , Tiphanie Merel , Oliver Zwermann , Diana Lourenco , Henri Lottmann , Urs Lichtenauer , Sandra Rojo , Felix Beuschlein , Ken McElreavey , Raja Brauner

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

Molecular human reproduction

Avec: Sylvie Jaillard , Kenneth McElreavy , Gorjana Robevska , Linda Akloul , Farah Ghieh , Rajini Sreenivasan , Marion Beaumont , Anu Bashamboo , Joelle Bignon-Topalovic , Anne-Sophie Neyroud , Katrina Bell , Elisabeth Veron-Gastard , Erika Launay , Jocelyn van den Bergen , Bénédicte Nouyou , François Vialard , Marc-Antoine Belaud-Rotureau , Katie L Ayers , Sylvie Odent , Célia Ravel , Elena J Tucker , Andrew H Sinclair

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Avec: Evgenia Globa , Nataliya Zelinska , Nina Siryk , Anu Bashamboo , Kenneth McElreavey

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Avec: Housna Zidoune , Laetitia Martinerie , Daisylyn S Tan , Masomeh Askari , Djalila Rezgoune , Asmahane Ladjouze , Asma Boukri , Yasmina Benelmadani , Karima Sifi , Noureddine Abadi , Dalila Satta , Mandana Rastari , Mehrshad Seresht-Ahmadi , Joelle Bignon-Topalovic , Inas Mazen , Juliane Leger , Dominique Simon , Raja Brauner , Mehdi Totonchi , Ralf Jauch , Anu Bashamboo , Kenneth McElreavey

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Frontiers in endocrinology

Avec: Evgenia Globa , Natalia Zelinska , Yulia Shcherbak , Joelle Bignon-Topalovic , Anu Bashamboo , Ken MсElreavey

Identification of a missense variant in CLDN2 in obstructive azoospermia.

Journal of human genetics

Avec: Masomeh Askari , Razieh Karamzadeh , Naser Ansari-Pour , Mohammad Hossein Karimi-Jafari , Navid Almadani , Mohammad Ali Sadighi Gilani , Hamid Gourabi , Ahmad Vosough Taghi Dizaj , Anahita Mohseni Meybodi , Mehdi Sadeghi , Anu Bashamboo , Ken McElreavey , Mehdi Totonchi

Monogenic Forms of DSD: An Update.

Hormone research in paediatrics

Avec: Kenneth McElreavey , Anu Bashamboo

Oligogenic Inheritance Underlying Incomplete Penetrance of

Frontiers in genetics

Avec: Rahma Mkaouar , Lamia Cherif Ben Abdallah , Chokri Naouali , Saida Lahbib , Zinet Turki , Sahar Elouej , Yosra Bouyacoub , Maali Somai , Kenneth Mcelreavey , Anu Bashamboo , Sonia Abdelhak , Olfa Messaoud

Genetics of 46,XY gonadal dysgenesis.

Best practice & research. Clinical endocrinology & metabolism

Avec: Maëva Elzaiat , Ken McElreavey , Anu Bashamboo

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

PloS one

Avec: Raja Brauner , Joelle Bignon-Topalovic , Anu Bashamboo , Ken McElreavey

Evidence for NR2F2/COUP-TFII involvement in human testis development.

Scientific reports

Avec: Somboon Wankanit , Housna Zidoune , Joëlle Bignon-Topalovic , Laurène Schlick , Denis Houzelstein , Leila Fusée , Asma Boukri , Nassim Nouri , Ken McElreavey , Anu Bashamboo , Maëva Elzaiat

The evolving role of whole-exome sequencing in the management of disorders of sex development.

Endocrine connections

Avec: Yardena Tenenbaum-Rakover , Osnat Admoni , Ghadir Elias-Assad , Shira London , Marie Noufi-Barhoum , Hanna Ludar , Tal Almagor , Yoav Zehavi , Charles Sultan , Rita Bertalan , Anu Bashamboo , Kenneth McElreavey

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

PloS one

Avec: Raja Brauner , Joelle Bignon-Topalovic , Anu Bashamboo , Ken McElreavey

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Molecular genetics & genomic medicine

Avec: Abir Ben Haj Ali , Ahlem Amouri , Marwa Sayeb , Saloua Makni , Wajih Hammami , Chokri Naouali , Hamza Dallali , Lilia Romdhane , Anu Bashamboo , Kenneth McElreavey , Sonia Abdelhak , Olfa Messaoud

DHX37 and 46,XY DSD: A New Ribosomopathy?

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Avec: Kenneth McElreavey , Eric Pailhoux , Anu Bashamboo

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

Frontiers in genetics

Avec: Housna Zidoune , Asmahane Ladjouze , Djalila Chellat-Rezgoune , Asma Boukri , Scheher Aman Dib , Nassim Nouri , Meryem Tebibel , Karima Sifi , Noureddine Abadi , Dalila Satta , Yasmina Benelmadani , Joelle Bignon-Topalovic , Maeva El-Zaiat-Munsch , Anu Bashamboo , Ken McElreavey

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Reproductive biology and endocrinology : RB&E

Avec: Khouloud Rjiba , Soumaya Mougou-Zerelli , Imen Hadj Hamida , Ghada Saad , Bochra Khadija , Afef Jelloul , Wafa Slimani , Yosra Hasni , Sarra Dimassi , Hela Ben Khelifa , Amira Sallem , Molka Kammoun , Hamza Hadj Abdallah , Moez Gribaa , Joelle Bignon-Topalovic , Sami Chelly , Hédi Khairi , Mohamed Bibi , Maha Kacem , Ali Saad , Anu Bashamboo , Kenneth McElreavey

In vitro cellular reprogramming to model gonad development and its disorders.

Science advances

Avec: Nitzan Gonen , Caroline Eozenou , Richard Mitter , Maëva Elzaiat , Isabelle Stévant , Rona Aviram , Andreia Sofia Bernardo , Almira Chervova , Somboon Wankanit , Emmanuel Frachon , Pierre-Henri Commère , Sylvie Brailly-Tabard , Léo Valon , Laura Barrio Cano , Romain Levayer , Inas Mazen , Samy Gobaa , James C Smith , Kenneth McElreavey , Robin Lovell-Badge , Anu Bashamboo

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Nature communications

Avec: Katie L Ayers , Stefanie Eggers , Ben N Rollo , Katherine R Smith , Nadia M Davidson , Nicole A Siddall , Liang Zhao , Josephine Bowles , Karin Weiss , Ginevra Zanni , Lydie Burglen , Shay Ben-Shachar , Jenny Rosensaft , Annick Raas-Rothschild , Anne Jørgensen , Ralf B Schittenhelm , Cheng Huang , Gorjana Robevska , Jocelyn van den Bergen , Franca Casagranda , Justyna Cyza , Svenja Pachernegg , David K Wright , Melanie Bahlo , Alicia Oshlack , Terrence J O'Brien , Patrick Kwan , Peter Koopman , Gary R Hime , Nadine Girard , Chen Hoffmann , Yuval Shilon , Amnon Zung , Enrico Bertini , Mathieu Milh , Bochra Ben Rhouma , Neila Belguith , Anu Bashamboo , Kenneth McElreavey , Ehud Banne , Naomi Weintrob , Bruria BenZeev , Andrew H Sinclair

Réseau de co-auteurs

Kenneth McElreavey 12 collaborations

Joelle Bignon-Topalovic 11 collaborations

Ken McElreavey 10 collaborations

Inas Mazen 6 collaborations

Caroline Eozenou 5 collaborations

Raja Brauner 5 collaborations

Mehdi Totonchi 4 collaborations

Masomeh Askari 4 collaborations

Maëva Elzaiat 4 collaborations

Rita Bertalan 3 collaborations

Denis Houzelstein 3 collaborations

Evgenia Globa 3 collaborations

Somboon Wankanit 3 collaborations

Housna Zidoune 3 collaborations

Asma Boukri 3 collaborations

Nitzan Gonen 2 collaborations

Anne Jorgensen 2 collaborations

Anahita Mohseni Meybodi 2 collaborations

Robin Lovell-Badge 2 collaborations

Tiphanie Merel 2 collaborations

Federica Buonocore 2 collaborations

John C Achermann 2 collaborations

Juliane Leger 2 collaborations

Laetitia Martinerie 2 collaborations

Gerard S Conway 2 collaborations

Ralf Jauch 2 collaborations

Alaa Kamel 2 collaborations

Aya Elaidy 2 collaborations

Mandana Rastari 2 collaborations

Mehrshad Seresht-Ahmadi 2 collaborations

Laurène Schlick 2 collaborations

Gorjana Robevska 2 collaborations

Jocelyn van den Bergen 2 collaborations

Katie L Ayers 2 collaborations

Andrew H Sinclair 2 collaborations

Asmahane Ladjouze 2 collaborations

Yasmina Benelmadani 2 collaborations

Karima Sifi 2 collaborations

Noureddine Abadi 2 collaborations

Dalila Satta 2 collaborations

Chokri Naouali 2 collaborations

Sonia Abdelhak 2 collaborations

Olfa Messaoud 2 collaborations

Nassim Nouri 2 collaborations

Maria Sol Touzon 1 collaboration

Svetlana A Yatsenko 1 collaboration

Leila Fusee 1 collaboration

Alaa K Kamel 1 collaboration

Balazs Gellen 1 collaboration

Gabriela Guercio 1 collaboration

Priti Singh 1 collaboration

Selma Witchel 1 collaboration

Andrea J Berman 1 collaboration

Rana Mainpal 1 collaboration

Tiphanie Merel-Chali 1 collaboration

Roberta Migale 1 collaboration

Mariana Costanzo 1 collaboration

Roxana Marino 1 collaboration

Pablo Ramirez 1 collaboration

Natalia Perez Garrido 1 collaboration

Esperanza Berensztein 1 collaboration

Mona K Mekkawy 1 collaboration

John C Schimenti 1 collaboration

Alicia Belgorosky 1 collaboration

Aleksandar Rajkovic 1 collaboration

Daisylyn Senna Tan 1 collaboration

Nick Warr 1 collaboration

Raissa G G Kay 1 collaboration

Matthieu Peycelon 1 collaboration

Jean-Pierre Siffroi 1 collaboration

Yuliya Shcherbak 1 collaboration

Agnes Sallai 1 collaboration

Jean-Claude Carel 1 collaboration

Romain Le Ru 1 collaboration

Brigitte Mignot 1 collaboration

Lionel Van Maldergem 1 collaboration

Serge Nef 1 collaboration

Andy Greenfield 1 collaboration

Mona Mekkawy 1 collaboration

Mona Essawi 1 collaboration

Heba Hassan 1 collaboration

Mohamed Abdel-Hamid 1 collaboration

Khalda Amr 1 collaboration

Hala Soliman 1 collaboration

Mona El-Ruby 1 collaboration

Ahmed Torky 1 collaboration

Mona El Gammal 1 collaboration

M G Yefimova 1 collaboration

C Lefevre 1 collaboration

A Bashamboo 1 collaboration

C Eozenou 1 collaboration

A Burel 1 collaboration

M T Lavault 1 collaboration

A C Meunier 1 collaboration

C Pimentel 1 collaboration

S Veau 1 collaboration

A S Neyroud 1 collaboration

S Jaillard 1 collaboration

B Jégou 1 collaboration

N Bourmeyster 1 collaboration

C Ravel 1 collaboration

Maryam Razzaghy-Azar 1 collaboration

Mohamed S Abdel-Hamid 1 collaboration

Carlos F Lagos 1 collaboration

Inma Gonzalez 1 collaboration

Vincent Laville 1 collaboration

Prochi Madon 1 collaboration

Jyotsna Kirtane 1 collaboration

Arundhati Athalye 1 collaboration

Stéphanie Bigou 1 collaboration

Delphine Bohl 1 collaboration

Oliver Zwermann 1 collaboration

Diana Lourenco 1 collaboration

Henri Lottmann 1 collaboration

Urs Lichtenauer 1 collaboration

Sandra Rojo 1 collaboration

Felix Beuschlein 1 collaboration

Sylvie Jaillard 1 collaboration

Kenneth McElreavy 1 collaboration

Linda Akloul 1 collaboration

Farah Ghieh 1 collaboration

Rajini Sreenivasan 1 collaboration

Marion Beaumont 1 collaboration

Anne-Sophie Neyroud 1 collaboration

Katrina Bell 1 collaboration

Elisabeth Veron-Gastard 1 collaboration

Erika Launay 1 collaboration

Bénédicte Nouyou 1 collaboration

François Vialard 1 collaboration

Marc-Antoine Belaud-Rotureau 1 collaboration

Sylvie Odent 1 collaboration

Célia Ravel 1 collaboration

Elena J Tucker 1 collaboration

Nataliya Zelinska 1 collaboration

Nina Siryk 1 collaboration

Daisylyn S Tan 1 collaboration

Djalila Rezgoune 1 collaboration

Dominique Simon 1 collaboration

Natalia Zelinska 1 collaboration

Yulia Shcherbak 1 collaboration

Ken MсElreavey 1 collaboration

Razieh Karamzadeh 1 collaboration

Naser Ansari-Pour 1 collaboration

Mohammad Hossein Karimi-Jafari 1 collaboration

Navid Almadani 1 collaboration

Mohammad Ali Sadighi Gilani 1 collaboration

Hamid Gourabi 1 collaboration

Ahmad Vosough Taghi Dizaj 1 collaboration

Mehdi Sadeghi 1 collaboration

Rahma Mkaouar 1 collaboration

Lamia Cherif Ben Abdallah 1 collaboration

Saida Lahbib 1 collaboration

Zinet Turki 1 collaboration

Sahar Elouej 1 collaboration

Yosra Bouyacoub 1 collaboration

Maali Somai 1 collaboration

Kenneth Mcelreavey 1 collaboration

Joëlle Bignon-Topalovic 1 collaboration

Leila Fusée 1 collaboration

Yardena Tenenbaum-Rakover 1 collaboration

Osnat Admoni 1 collaboration

Ghadir Elias-Assad 1 collaboration

Shira London 1 collaboration

Marie Noufi-Barhoum 1 collaboration

Hanna Ludar 1 collaboration

Tal Almagor 1 collaboration

Yoav Zehavi 1 collaboration

Charles Sultan 1 collaboration

Abir Ben Haj Ali 1 collaboration

Ahlem Amouri 1 collaboration

Marwa Sayeb 1 collaboration

Saloua Makni 1 collaboration

Wajih Hammami 1 collaboration

Hamza Dallali 1 collaboration

Lilia Romdhane 1 collaboration

Eric Pailhoux 1 collaboration

Djalila Chellat-Rezgoune 1 collaboration

Scheher Aman Dib 1 collaboration

Meryem Tebibel 1 collaboration

Maeva El-Zaiat-Munsch 1 collaboration

Khouloud Rjiba 1 collaboration

Soumaya Mougou-Zerelli 1 collaboration

Imen Hadj Hamida 1 collaboration

Ghada Saad 1 collaboration

Bochra Khadija 1 collaboration

Afef Jelloul 1 collaboration

Wafa Slimani 1 collaboration

Yosra Hasni 1 collaboration

Sarra Dimassi 1 collaboration

Hela Ben Khelifa 1 collaboration

Amira Sallem 1 collaboration

Molka Kammoun 1 collaboration

Hamza Hadj Abdallah 1 collaboration

Moez Gribaa 1 collaboration

Sami Chelly 1 collaboration

Hédi Khairi 1 collaboration

Mohamed Bibi 1 collaboration

Maha Kacem 1 collaboration

Ali Saad 1 collaboration

Richard Mitter 1 collaboration

Isabelle Stévant 1 collaboration

Rona Aviram 1 collaboration

Andreia Sofia Bernardo 1 collaboration

Almira Chervova 1 collaboration

Emmanuel Frachon 1 collaboration

Pierre-Henri Commère 1 collaboration

Sylvie Brailly-Tabard 1 collaboration

Léo Valon 1 collaboration

Laura Barrio Cano 1 collaboration

Romain Levayer 1 collaboration

Samy Gobaa 1 collaboration

James C Smith 1 collaboration

Stefanie Eggers 1 collaboration

Ben N Rollo 1 collaboration

Katherine R Smith 1 collaboration

Nadia M Davidson 1 collaboration

Nicole A Siddall 1 collaboration

Liang Zhao 1 collaboration

Josephine Bowles 1 collaboration

Karin Weiss 1 collaboration

Ginevra Zanni 1 collaboration

Lydie Burglen 1 collaboration

Shay Ben-Shachar 1 collaboration

Jenny Rosensaft 1 collaboration

Annick Raas-Rothschild 1 collaboration

Anne Jørgensen 1 collaboration

Ralf B Schittenhelm 1 collaboration

Cheng Huang 1 collaboration

Franca Casagranda 1 collaboration

Justyna Cyza 1 collaboration

Svenja Pachernegg 1 collaboration

David K Wright 1 collaboration

Melanie Bahlo 1 collaboration

Alicia Oshlack 1 collaboration

Terrence J O'Brien 1 collaboration

Patrick Kwan 1 collaboration

Peter Koopman 1 collaboration

Gary R Hime 1 collaboration

Nadine Girard 1 collaboration

Chen Hoffmann 1 collaboration

Yuval Shilon 1 collaboration

Amnon Zung 1 collaboration

Enrico Bertini 1 collaboration

Mathieu Milh 1 collaboration

Bochra Ben Rhouma 1 collaboration

Neila Belguith 1 collaboration

Ehud Banne 1 collaboration

Naomi Weintrob 1 collaboration

Bruria BenZeev 1 collaboration