Jérôme Maluenda
0000-0002-6653-1336
Publication & Citation Trends
Most Cited Works
Publications
19 total
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita PDF
Cited by 62
OpenAlex
Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA PDF
Cited by 2
OpenAlex
Publisher Correction: Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA PDF
Cited by 1
OpenAlex
Detecting genetic variation and base modifications together in the same single molecules of DNA and RNA at base pair resolution using a magnetic tweezer platform OA
Cited by 0
Semantic Scholar
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita PDF
Cited by 29
OpenAlex
Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis PDF
Cited by 62
OpenAlex
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. OA
Cited by 50
Semantic Scholar
NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)
Cited by 1
Semantic Scholar
Research Topics
Neurogenetic and Muscular Disorders Research
(9)
RNA modifications and cancer
(6)
RNA Interference and Gene Delivery
(4)
RNA Research and Splicing
(3)
Cardiomyopathy and Myosin Studies
(3)
Frequent Co-Authors
Affiliations
Université Paris-Sud
Délégation Paris 5
Inserm
Université Paris Cité
Université Paris-Saclay