Her primary areas of investigation include Genetics, Mutation, Frameshift mutation, Cilium and Exome sequencing. Her research related to Gene, Microcephaly, Ciliopathies, Locus and Microphthalmia might be considered part of Genetics. In her research on the topic of Locus, Comparative genomic hybridization is strongly related with Candidate gene.
Christel Thauvin-Robinet interconnects Phenotype, Age of onset and Exon in the investigation of issues within Mutation. Her Exome sequencing research integrates issues from Intellectual disability, Ictal, Arachnodactyly, Subclinical infection and Pediatrics. Her Missense mutation research incorporates themes from Camptodactyly, Molecular biology, Amyotrophic lateral sclerosis and Genotype.
The scientist’s investigation covers issues in Genetics, Exome sequencing, Intellectual disability, Gene and Pediatrics. Her research links Bioinformatics with Genetics. The various areas that Christel Thauvin-Robinet examines in her Bioinformatics study include Genetic counseling and Haploinsufficiency.
Her Exome sequencing research is multidisciplinary, incorporating perspectives in Genetic heterogeneity, Compound heterozygosity, Cohort and Candidate gene. Her Intellectual disability study combines topics in areas such as Autism, Proband and Marfanoid. Christel Thauvin-Robinet combines subjects such as Genotype and Pathology with her study of Phenotype.
Christel Thauvin-Robinet mainly focuses on Genetics, Intellectual disability, Exome sequencing, Phenotype and Missense mutation. Her Genetics study is mostly concerned with Candidate gene and Genetic heterogeneity. Her Intellectual disability research is multidisciplinary, incorporating elements of Proband, X-linked intellectual disability, Autism, Short stature and Human genetics.
She interconnects Reverse transcriptase, Compound heterozygosity and Clinical significance in the investigation of issues within Exome sequencing. Her work in Phenotype addresses issues such as Fetus, which are connected to fields such as Pathology and Medical genetics. Her Missense mutation study integrates concerns from other disciplines, such as Protein kinase B, Bioinformatics, Noonan syndrome, Microcephaly and Macrocephaly.
Her scientific interests lie mostly in Genetics, Missense mutation, Intellectual disability, Genetic heterogeneity and Exome sequencing. Her study in Genetics focuses on Candidate gene in particular. In her research, Mutation, Haploinsufficiency, Corpus Callosum Agenesis, Neuroscience and Gene duplication is intimately related to Microcephaly, which falls under the overarching field of Missense mutation.
Her studies deal with areas such as Phenotype, Proband and Short stature as well as Intellectual disability. Her Genetic heterogeneity study incorporates themes from Fetus, Fetal Presentation, Endocardial fibroelastosis and Medical genetics. The concepts of her Exome sequencing study are interwoven with issues in Compound heterozygosity and Macrocephaly.
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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
Stéphanie Millecamps;François Salachas;Cécile Cazeneuve;Paul H. Gordon.
Journal of Medical Genetics (2010)
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger.
Journal of Medical Genetics (2014)
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis.
Nature Genetics (2011)
A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
Philippe Latour;Christel Thauvin-Robinet;Chantal Baudelet-Méry;Pierre Soichot.
American Journal of Human Genetics (2010)
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Karlien L.M. Coene;Ronald Roepman;Dan Doherty;Bushra Afroze.
American Journal of Human Genetics (2009)
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
Gaël Nicolas;Cyril Pottier;Camille Charbonnier;Lucie Guyant-Maréchal.
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau.
Nature Genetics (2011)
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
J. Thevenon;Y. Duffourd;A. Masurel-Paulet;M. Lefebvre.
Clinical Genetics (2016)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Sabina Benko;Christopher T Gordon;Delphine Mallet;Rajini Sreenivasan.
Journal of Medical Genetics (2011)
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
Christel Thauvin-Robinet;Martine Auclair;Laurence Duplomb;Martine Caron-Debarle.
American Journal of Human Genetics (2013)
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