Tania Attié-Bitach

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

  Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang

  919
  Citations

• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  564
  Citations

• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  421
  Citations

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  404
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  332
  Citations

• The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat

  Ursula M Smith;Mark Consugar;Louise J Tee;Brandy M McKee

  332
  Citations

• Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

  Nadege Bondurand;Nadege Bondurand;Florence Dastot-Le Moal;Laure Stanchina;Laure Stanchina;Nathalie Collot

  320
  Citations

• The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

  Helen R. Dawe;Ursula M. Smith;Andrew R. Cullinane;Dianne Gerrelli

  319
  Citations

• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

  Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  314
  Citations

• Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

  Karine Poirier;Yoann Y. Saillour;Yoann Y. Saillour;Nadia Bahi-Buisson;Nadia Bahi-Buisson;Xavier H Jaglin;Xavier H Jaglin

  299
  Citations

• Segregation at three loci explains familial and population risk in Hirschsprung disease

  Stacey Bolk Gabriel;Rémi Salomon;Anna Pelet;Misha Angrist

  293
  Citations

• PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

  Sylvia Sura Trueba;Joëlle Augé;Géraldine Mattei;Heather Etchevers

  291
  Citations

• The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

  Lekbir Baala;Stéphane Romano;Rana Khaddour;Sophie Saunier

  272
  Citations

• Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

  Damien Sanlaville;Heather C Etchevers;Marie Gonzales;Jelena Martinovic

  267
  Citations

• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

  Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis

  260
  Citations

• Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

  Florence Molinari;Marlène Rio;Virginia Meskenaite;Férechté Encha-Razavi

  256
  Citations

• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

  Lekbir Baala;Sylvain Briault;Heather C Etchevers;Frédéric Laumonnier

  237
  Citations

• Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

  Renaud L. Touraine;Tania Attié-Bitach;Eric Manceau;Eckhard Korsch

  229
  Citations

• Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

  Christelle Golzio;Jelena Martinovic-Bouriel;Sophie Thomas;Soumaya Mougou-Zrelli

  216
  Citations