Jerome Maluenda
Paris, France
Last Updated: 09/26/2026
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Found 10 publications
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal: Journal of medical genetics
Published: November 16, 2020
Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA.
Journal: Communications biology
Published: June 20, 2020
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Journal: American journal of human genetics
Published: October 21, 2016
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Journal: American journal of human genetics
Published: June 03, 2016
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Journal: American journal of human genetics
Published: July 20, 2015
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Journal: American journal of human genetics
Published: February 13, 2015
An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.
Journal: Stem cells translational medicine
Published: February 05, 2015
Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.
Journal: Stem cells translational medicine
Published: April 17, 2014
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Journal: Human molecular genetics
Published: December 10, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026