Claire Redin
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila , and Humans(2012)870 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)272 cited
- → XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing(2013)253 cited
- → Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome(2017)233 cited
- → A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection(2020)232 cited
- → DPY19L2 Deletion as a Major Cause of Globozoospermia(2011)207 cited
- → Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes(2012)113 cited
- → Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots(2012)112 cited
- → Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A(2015)104 cited