2023 - Research.com Medicine in France Leader Award
2023 - Research.com Genetics in France Leader Award
2022 - Research.com Genetics and Molecular Biology in France Leader Award
2000 - Grand prix de l'Inserm - Institut national de la santé et de la recherche médicale
His scientific interests lie mostly in Genetics, Mutation, Internal medicine, Missense mutation and Endocrinology. Gene, Genetic heterogeneity, Mitochondrial DNA, Frameshift mutation and Mutant are among the areas of Genetics where the researcher is concentrating his efforts. His Mutation research is multidisciplinary, incorporating elements of Protein subunit, Respiratory chain, Microcephaly and Encephalopathy.
His studies deal with areas such as Proband, Sleep onset and Smith–Magenis syndrome as well as Internal medicine. His Missense mutation research includes elements of Penetrance and Proto-Oncogene Proteins c-ret. His Endocrinology study combines topics in areas such as Neonatal onset, Ataxia, Pediatrics and Epilepsy.
His main research concerns Genetics, Gene, Internal medicine, Endocrinology and Mutation. His Genetics study frequently draws connections between related disciplines such as Molecular biology. He is interested in Exon, which is a branch of Gene.
His Internal medicine study incorporates themes from Gastroenterology and Pathology. His biological study spans a wide range of topics, including Respiratory chain and Mitochondrial DNA. His Locus research is multidisciplinary, relying on both Allele, Haplotype, Genetic linkage and Gene mapping.
His primary scientific interests are in Genetics, Missense mutation, Gene, Exome sequencing and Intellectual disability. Mitochondrial DNA, Sanger sequencing, Compound heterozygosity, Phenotype and Mutation are the core of his Genetics study. His Missense mutation research integrates issues from Endocrinology, Bioinformatics, Internal medicine, X-inactivation and Epilepsy.
He has researched Gene in several fields, including Molecular biology and Cell biology. The study incorporates disciplines such as Genetic heterogeneity and Proband in addition to Exome sequencing. His Intellectual disability course of study focuses on Pediatrics and Genetic counseling, Ataxia and Disease.
The scientist’s investigation covers issues in Genetics, Exome sequencing, Mutation, Gene and Missense mutation. His works in Cilium, Ciliopathies, Microcephaly, Mitochondrial DNA and Phenotype are all subjects of inquiry into Genetics. His Exome sequencing research also works with subjects such as
Arnold Munnich has included themes like Endothelin receptor, Endothelin receptor type A, Endothelin 1, Medical genetics and Internal medicine in his Mutation study. His work on Mitochondrial disease, Novel mutation and X-inactivation as part of general Gene research is frequently linked to Large group, thereby connecting diverse disciplines of science. His Missense mutation research includes themes of MED12, Founder effect, Point mutation, Signal transduction and Genetic heterogeneity.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Lamin a truncation in hutchinson-gilford progeria
Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Pierre Cau;Claire Navarro.
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Agnès Rötig;Pascale de Lonlay;Dominique Chretien;Françoise Foury.
Nature Genetics (1997)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Rainer Döffinger;Asma Smahi;Christine Bessia;Frédéric Geissmann.
Nature Genetics (2001)
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Slaheddine Marrakchi;Philippe Guigue;Blair R. Renshaw;Anne Puel.
The New England Journal of Medicine (2011)
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy.
Human Mutation (2004)
miR-122, a paradigm for the role of microRNAs in the liver
Muriel Girard;Muriel Girard;Muriel Girard;Emmanuel Jacquemin;Arnold Munnich;Arnold Munnich;Arnold Munnich;Stanislas Lyonnet;Stanislas Lyonnet;Stanislas Lyonnet.
Journal of Hepatology (2008)
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Giulia Barcia;Matthew R Fleming;Aline Deligniere;Valeswara-Rao Gazula.
Nature Genetics (2012)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan.
Nature Genetics (2009)
Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy
Isabelle Valnot;Sandrine Osmond;Nadine Gigarel;Blandine Mehaye.
American Journal of Human Genetics (2000)
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
Smail Hadj-Rabia;Lekbir Baala;Pierre Vabres;Dominique Hamel-Teillac.
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