Chiara Bacchelli

Chiara Bacchelli

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Chiara Bacchelli

Chiara Bacchelli

Publications by authors named "Chiara Bacchelli"

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31Publications

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

Front Pediatr 2018 13;6:23. Epub 2018 Feb 13.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

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http://journal.frontiersin.org/article/10.3389/fped.2018.000
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http://dx.doi.org/10.3389/fped.2018.00023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816783PMC
February 2018

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

Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.

Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.019DOI Listing
December 2017

Toward personalized medicine in Bardet-Biedl syndrome.

Per Med 2017 09 4;14(5):447-456. Epub 2017 Sep 4.

NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford St, London WC1N 1EH, UK.

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http://dx.doi.org/10.2217/pme-2017-0019DOI Listing
September 2017

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

Eur J Haematol 2017 Mar 3;98(3):218-227. Epub 2017 Jan 3.

Genetics and Genomics Department, Dasman Diabetes Institute, Dasman, Kuwait.

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http://dx.doi.org/10.1111/ejh.12819DOI Listing
March 2017

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

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

J Allergy Clin Immunol 2017 02 15;139(2):634-642.e5. Epub 2016 Jul 15.

Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.036DOI Listing
February 2017

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

Expert Rev Mol Diagn 2016 10 25;16(10):1073-1082. Epub 2016 Aug 25.

b GOSgene, Genetics and Genomic Medicine Programme , UCL GOS Institute of Child Health , London , England.

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http://dx.doi.org/10.1080/14737159.2016.1222906DOI Listing
October 2016

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

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http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

J Clin Immunol 2015 Feb 8;35(2):147-57. Epub 2015 Feb 8.

Molecular and Cellular Immunology Section, Institute of Child Health, University College of London, London, UK,

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http://dx.doi.org/10.1007/s10875-015-0135-7DOI Listing
February 2015

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

J Med Genet 2014 Nov 5;51(11):748-55. Epub 2014 Sep 5.

Department of Gastroenterology, Great Ormond Street Hospital for Children, London, UK Katholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2014-102624DOI Listing
November 2014

Identification and validation of loss of function variants in clinical contexts.

Mol Genet Genomic Med 2014 Jan 11;2(1):58-63. Epub 2013 Oct 11.

University College London, Institute of Child Health, GOSgene team London, U.K.

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http://dx.doi.org/10.1002/mgg3.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907911PMC
January 2014

Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus.

J Clin Immunol 2007 Jul 27;27(4):372-7. Epub 2007 Apr 27.

Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Hugstetterstr. 55, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1007/s10875-007-9094-yDOI Listing
July 2007

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

Nat Genet 2007 Jun 29;39(6):727-9. Epub 2007 Apr 29.

Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/ng2038DOI Listing
June 2007