Publications by authors named "Dominic J McMullan"

20Publications

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.

Fetal Diagn Ther 2020 21;47(7):554-564. Epub 2020 Jan 21.

Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom,

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http://dx.doi.org/10.1159/000504976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446299PMC
January 2020

Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.

J Obstet Gynaecol 2017 Apr 28;37(3):375-376. Epub 2016 Dec 28.

b Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust , Birmingham , UK.

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http://dx.doi.org/10.1080/01443615.2016.1217513DOI Listing
April 2017

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Hum Mol Genet 2014 Jun 29;23(12):3269-77. Epub 2014 Jan 29.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1093/hmg/ddu038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780PMC
June 2014

Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy.

Prenat Diagn 2014 May 14;34(5):505-7. Epub 2014 Feb 14.

West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Edgbaston, Birmingham, UK.

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http://doi.wiley.com/10.1002/pd.4333
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http://dx.doi.org/10.1002/pd.4333DOI Listing
May 2014

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Am J Med Genet A 2012 Sep 6;158A(9):2317-21. Epub 2012 Aug 6.

Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.35520DOI Listing
September 2012

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.

Eur J Hum Genet 2011 Jun 9;19(6):634-9. Epub 2011 Mar 9.

Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1038/ejhg.2010.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110039PMC
June 2011

FUS/ERG gene fusions in Ewing's tumors.

Cancer Res 2003 Aug;63(15):4568-76

Medical Research Council Cancer Cell Unit, Hutchison/MRC Research Centre, Hills Road, Cambridge CB2 2XZ, UK.

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August 2003