Marlène Rio

Marlène Rio 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 Marlène Rio sits on this spectrum.

Marlène Rio 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 Marlène Rio sits on this spectrum.

Overview

Best Publications

• Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

  C Shaw-Smith;R Redon;L Rickman;M Rio

  733
  Citations

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

  Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  638
  Citations

• Breast cancer-Associated pS2 protein: Synthesis and secretion by normal stomach mucosa

  M. C. Rio;J. P. Bellocq;J. Y. Daniel;C. Tomasetto

  407
  Citations

• Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

  Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  397
  Citations

• Ghrelin/motilin-related peptide is a potent prokinetic to reverse gastric postoperative ileus in rat.

  L. Trudel;C. Tomasetto;M. C. Rio;M. Bouin

  382
  Citations

• Key clinical features to identify girls with CDKL5 mutations

  Nadia Bahi-Buisson;Juliette Nectoux;Juliette Nectoux;Haydeé Rosas-Vargas;Haydeé Rosas-Vargas;Mathieu Milh

  346
  Citations

• Identification of Four Novel Human Genes Amplified and Overexpressed in Breast Carcinoma and Localized to the q11-q21.3 Region of Chromosome 17

  C. Tomasetto;C. Régnier;C. Moog-Lutz;M.G. Mattei

  308
  Citations

• Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

  David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  297
  Citations

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  295
  Citations

• Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

  J Gekas;F Thepot;C Turleau;J P Siffroi

  276
  Citations

• hSP, the domain-duplicated homolog of pS2 protein, is co-expressed with pS2 in stomach but not in breast carcinoma.

  C. Tomasetto;M.C. Rio;C. Gautier;C. Wolf

  258
  Citations

• Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

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

  256
  Citations

• The three stages of epilepsy in patients with CDKL5 mutations.

  Nadia Bahi-Buisson;Nadia Bahi-Buisson;Anna Kaminska;Anna Kaminska;Nathalie Boddaert;Nathalie Boddaert;Marlène Rio

  220
  Citations

• NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

  Xavier Lahaye;Matteo Gentili;Aymeric Silvin;Cécile Conrad

  220
  Citations

• Spectrum of NSD1 mutations in Sotos and Weaver syndromes

  M Rio;L Clech;J Amiel;L Faivre

  178
  Citations

• Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

  Florence Molinari;Annick Raas-Rothschild;Marlène Rio;Giuseppe Fiermonte

  175
  Citations

• Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

  Louise Galmiche;Valérie Serre;Marine Beinat;Zahra Assouline

  169
  Citations

• Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

  Loïc de Pontual;Yves Mathieu;Christelle Golzio;Marlène Rio

  167
  Citations

• Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

  Geneviève Baujat;Marlène Rio;Sylvie Rossignol;Damien Sanlaville

  156
  Citations

• MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

  Satoru Hashimoto;Sarah Boissel;Mohammed Zarhrate;Marlène Rio

  150
  Citations