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Genetics

D-Index
67
Citations
20154
World Ranking
2512
National Ranking
113

Overview

Judith Melki is affiliated with the University of Paris-Saclay in France. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a focus on several specialized subfields including Molecular Biology, Genetics, and Neurology. Additional areas of study include Cardiology and Cardiovascular Medicine as well as Pulmonary and Respiratory Medicine.

The main topics covered by their work involve Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, RNA Research and Splicing, RNA regulation and disease, Vascular Malformations Diagnosis and Treatment, Intracranial Aneurysms: Treatment and Complications, and Cardiomyopathy and Myosin Studies.

The scientist has contributed to multiple peer-reviewed journals. Their most frequent publication venues are:

  • Journal of Medical Genetics
  • American Journal of Medical Genetics Part A
  • Prenatal Diagnosis
  • Brain
  • Frontiers in Pediatrics

Recent papers authored or co-authored by Judith Melki include:

  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita, 2021, Journal of Medical Genetics
  • De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes, 2020, Journal of Medical Genetics
  • State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformations, 2022, Prenatal Diagnosis
  • The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders, 2023, Brain
  • Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype, 2022, Frontiers in Pediatrics

Judith Melki has collaborated frequently with other researchers, including:

  • Jéléna Martinovic
  • Annie Laquerrière
  • Dana Jaber
  • Yline Capri
  • Alexandre Vivanti

Best Publications

  • Identification and characterization of a spinal muscular atrophy-determining gene

    Suzie Lefebvre;Lydie Bürglen;Sophie Reboullet;Olivier Clermont

  • Correlation between severity and SMN protein level in spinal muscular atrophy.

    Suzie Lefebvre;Philippe Burlet;Qing Liu;Solange Bertrandy

  • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

    Hélène Puccio;Delphine Simon;Mireille Cossée;Paola Criqui-Filipe

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

    E Tournier-Lasserve;A Joutel;J Melki;J Weissenbach

  • Peroxisome proliferator-activated receptor δ controls muscle development and oxydative capability

    Serge Luquet;Joaquin Lopez-Soriano;Dorte Holst;Alexandre Fredenrich

  • Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q

    J. Melki;S. Abdelhak;Peter Sheth;M. F. Bachelot

  • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

    Michael A van Es;Jan H Veldink;Christiaan G J Saris;Hylke M Blauw

  • De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

    Judith Melki;Suzie Lefebvre;Lydie Burglen;Philippe Burlet

  • Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

    Lydie Bürglen;Suzie Lefebvre;Olivier Clermont;Philippe Burlet

  • Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

    Carmen Cifuentes-Diaz;Sophie Nicole;Maria E. Velasco;Christophe Borra-Cebrian

  • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

    J. Melki;P. Sheth;S. Abdelhak;P. Burlet

  • A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

    Elena Bussaglia;Olivier Clermont;Eduardo Tizzano;Suzie Lefebvre

  • Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

    Tony Frugier;Francesco D. Tiziano;Carmen Cifuentes-Diaz;Pierre Miniou

  • Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

    Carmen Cifuentes-Diaz;Tony Frugier;Francesco D. Tiziano;Emmanuelle Lacène

  • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

    Aleksey Shatunov;Kin Mok;Stephen Newhouse;Michael E Weale

  • Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

    John E. Landers;Judith Melki;Vincent Meininger;Jonathan D. Glass

  • Gene targeting restricted to mouse striated muscle lineage

    Miniou P;Tiziano D;Frugier T;Roblot N

  • A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition

    Anne Tarrade;Coralie Fassier;Sabrina Courageot;Delphine Charvin

  • Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

    Hazan J;Lamy C;Melki J;Munnich A

  • The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

    Suzie Lefebvre;Lydie Bürglen;Jean Frézal;Arnold Munnich

Frequent Co-Authors

Olivier Clermont
Olivier Clermont Université Paris Cité
Lydie Burglen
Lydie Burglen Hôpital Armand-Trousseau
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
John Landers
John Landers University of Massachusetts Chan Medical School
Orla Hardiman
Orla Hardiman Trinity College Dublin
Ammar Al-Chalabi
Ammar Al-Chalabi King's College London
Leonard H. van den Berg
Leonard H. van den Berg Utrecht University
Christopher Shaw
Christopher Shaw King's College London
Jan H. Veldink
Jan H. Veldink Utrecht University

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