Home › Researcher directory › J. Roume

J. Roume

Affiliation : Centre Hospitalier Intercommunal de Poissy

• 6Publications (affiliation in France)
• 130Total publications
• 5811Citations
• 44h-index

OpenAlex

Research profile

J. Roume has 6 indexed publications (2005–2014). Their work appears mainly in “Nature Genetics”, “Human Mutation” and “European Journal of Human Genetics”. Their most cited article, “Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis” (2005), has been cited 295 times. Their work is co-authored with at least 12 researchers, including institutions in Tunisia.

Is this you? Get your research seen

Create your free DzCademia profile and add your articles: they will show up more easily on Google and in AI assistants like ChatGPT, so more people can read and cite your work.

Create my free profile Add my publications

Research areas

• Genomics and Rare Diseases
• Fetal and Pediatric Neurological Disorders
• Prenatal Screening and Diagnostics
• Congenital limb and hand anomalies
• Genetic and Kidney Cyst Diseases

Publications (6)

• New insights into genotype–phenotype correlation for GLI3 mutations
  2014 · European Journal of Human Genetics · cited 126 times
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
  2010 · Nature Genetics · cited 282 times
• Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
  2010 · Human Genetics · cited 134 times
• High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
  2010 · Human Mutation · cited 33 times
• CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
  2009 · Human Mutation · cited 90 times
• Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
  2005 · Nature Genetics · cited 295 times

Publication venues

• Nature Genetics × 2
• Human Mutation × 2
• European Journal of Human Genetics × 1
• Human Genetics × 1

Publications per year

• 20141
• 20103
• 20091
• 20051

Collaborations

Partner institutions : Hôpital Necker-Enfants Malades · Inserm · Assistance Publique – Hôpitaux de Paris · Université Paris Descartes · Institut Necker Enfants Malades

Co-authors’ countries : Tunisia

Co-authors

• Marie Gonzalès
• Arnold Münnich
• Soumaya Mougou-Zerelli
• Tania Attié‐Bitach
• Michel J. J. Vekemans
• Anne‐Lise Delezoide
• Sophie Thomas
• Férechté Encha‐Razavi
• Nadia Elkhartoufi
• Muriel Holder
• Jéléna Martinovic
• Amale Ichkou

Bibliographic data from OpenAlex (open database).