Chiara Bacchelli

30 Guilford Street
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 26 publications

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 27, 2021

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Journal: Human genome variation

Published: March 27, 2019

Toward personalized medicine in Bardet-Biedl syndrome.

Toward personalized medicine in Bardet-Biedl syndrome.

Journal: Personalized medicine

Published: May 15, 2018

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Journal: Journal of medical genetics

Published: April 09, 2018

Managing Bardet-Biedl Syndrome-Now and in the Future.

Managing Bardet-Biedl Syndrome-Now and in the Future.

Journal: Frontiers in pediatrics

Published: December 14, 2017

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Journal: Human molecular genetics

Published: November 20, 2017

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Journal: PLoS genetics

Published: November 30, 2016

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Journal: American journal of human genetics

Published: November 01, 2016

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Journal: European journal of medical genetics

Published: October 18, 2016

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.

Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.

Journal: European journal of haematology

Published: October 07, 2016

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.

Journal: Expert review of molecular diagnostics

Published: August 26, 2016

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

Journal: Journal of Crohn's & colitis

Published: June 16, 2016

Showing 1-12 of 26

Last Updated: 09/26/2026