Tania Attié-Bitach

Tania Attié-Bitach publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Tania Attié-Bitach sits on this spectrum.

Tania Attié-Bitach D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Tania Attié-Bitach sits on this spectrum.

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