Concepedia

Chiara Bacchelli

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Statistics

Publications

40

Citations

4.9K

H-Index

34

Active since

2000

Affiliations

University College London(Current)

Great Ormond Street Hospital

University of Cambridge

Great Ormond Street Hospital for Children NHS Foundation Trust

The Royal Free Hospital

Chiara Bacchelli is an author at University College London specializing in genetics, life sciences, and molecular genetics.

Publications per year

2000–2023

40

Publications

40

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

, , +17

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 · 484 citations · Full text

, , +17

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

I. Slade, Chiara Bacchelli, Anne R. Murray et al. · Journal of Medical Genetics · 2011 · 365 citations · Full text

, , +17

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 · 340 citations · Full text

, , +5

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 · 281 citations · Full text

, , +15

1–5 of 40