Home › Researcher directory › Jamel Chelly

Jamel Chelly

Affiliation : Hôpitaux Universitaires de Strasbourg

• 10Publications (affiliation in France)
• 557Total publications
• 32772Citations
• 89h-index

ORCIDOpenAlex

Research profile

Jamel Chelly has 10 indexed publications (1999–2022). Their work appears mainly in “Nature Genetics”, “European Journal of Human Genetics” and “Journal of Clinical Images and Medical Case Reports”. Their most cited article, “A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation” (2000), has been cited 239 times. Their work is co-authored with at least 12 researchers.

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

• Genetics and Neurodevelopmental Disorders
• Genomics and Rare Diseases
• Genomic variations and chromosomal abnormalities
• Down syndrome and intellectual disability research
• Fetal and Pediatric Neurological Disorders

Publications (10)

• Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children
  2022 · Journal of Clinical Images and Medical Case Reports
• Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
  2018 · Nature Genetics · cited 86 times
• First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
  2017 · BMC Medical Genetics · cited 22 times
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
  2015 · European Journal of Human Genetics · cited 41 times
• When a mid-intronic variation of DMD gene creates an ESE site
  2014 · Neuromuscular Disorders · cited 31 times
• A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
  2011 · European Journal of Medical Genetics · cited 19 times
• A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
  2008 · European Journal of Human Genetics · cited 50 times
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
  2003 · Nature Genetics · cited 172 times
• A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
  2000 · Nature Genetics · cited 239 times
• Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)
  1999 · American Journal of Medical Genetics · cited 9 times

Publication venues

• Nature Genetics × 3
• European Journal of Human Genetics × 2
• Journal of Clinical Images and Medical Case Reports × 1
• BMC Medical Genetics × 1
• Neuromuscular Disorders × 1
• European Journal of Medical Genetics × 1

Publications per year

• 20221
• 20181
• 20171
• 20151
• 20141
• 20111
• 20081
• 20031
• 20001
• 19991

Collaborations

Partner institutions : Inserm · Hôpital Cochin · Université Paris Descartes · Institut Cochin · Centre National de la Recherche Scientifique

Co-authors

• Yoann Saillour
• Cherif Beldjord
• V. des Portes
• Claude Moraine
• Thierry Bienvenu
• Nadia Bahi‐Buisson
• Bettina Bessières
• Axel Kahn
• Marie Claude Vinet
• Nicole Philip
• Alain Carrié
• France Leturcq

Bibliographic data from OpenAlex (open database).