Chiara Bacchelli

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

<i>DICER1</i> syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

I. Slade, Chiara Bacchelli, H. Davies et al. · Journal of Medical Genetics · 2011 · 361 citations · Full text

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Philip L. Beales, Elizabeth Bland, Jonathan L. Tobin et al. · Nature Genetics · 2007 · 335 citations

Organelle Dynamic, Genetics, Autophagy +10

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Ulrich Salzer, Chiara Bacchelli, Sylvie Buckridge et al. · Blood · 2008 · 274 citations · Full text

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Frances R. Goodman, Chiara Bacchelli, Angela F. Brady et al. · The American Journal of Human Genetics · 2000 · 259 citations · Full text

Novel Hoxa13 Mutations, Mendelian Disorder, Genetic Disorder +5