Publications by authors named "Ingrid Simonic"

18Publications

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Clin Genet 2020 Aug 10;98(2):147-154. Epub 2020 Jun 10.

Paediatric Neurology, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.

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http://dx.doi.org/10.1111/cge.13771DOI Listing
August 2020

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Arch Dis Child 2020 Oct 28;105(10):1021-1022. Epub 2019 Sep 28.

Rosie Neonatal Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1136/archdischild-2019-317966DOI Listing
October 2020

Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics.

Stem Cell Reports 2019 01 27;12(1):165-179. Epub 2018 Dec 27.

Wellcome-MRC Cambridge Stem Cell Institute, Anne McLaren Laboratory, University of Cambridge, Cambridge CB2 0SZ, UK; Department of Surgery, University of Cambridge, Cambridge CB2 0QQ, UK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183048
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http://dx.doi.org/10.1016/j.stemcr.2018.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335580PMC
January 2019

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Am J Med Genet A 2017 Jul 12;173(7):1931-1935. Epub 2017 May 12.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.38261DOI Listing
July 2017

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Biochim Biophys Acta 2014 Jan 24;1842(1):56-64. Epub 2013 Oct 24.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2013.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898479PMC
January 2014

Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.

Am J Med Genet A 2013 May 26;161A(5):1185-8. Epub 2013 Mar 26.

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.35853DOI Listing
May 2013

The spectrum of 4q- syndrome illustrated by a case series.

Gene 2012 Sep 3;506(2):387-91. Epub 2012 Jul 3.

Institute of Human Genetics and Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.gene.2012.06.087DOI Listing
September 2012

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.

Am J Med Genet A 2010 Jul;152A(7):1764-9

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.33426DOI Listing
July 2010

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.

Eur J Hum Genet 2007 Jan 20;15(1):45-52. Epub 2006 Sep 20.

Cytogenetics Laboratory, Medical Genetics Department, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201720DOI Listing
January 2007