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Author Details

Dominic J McMullan
Birmingham Women's and Children's NHS Foundation Trust
1995
63
29
PMIDPaper TitleJournal TitlePublished Year
34411415Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?BJOG2022
35904974Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.Am J Med Genet A2022
34940998Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.Ultrasound Obstet Gynecol2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33847422Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound Obstet Gynecol2021
33590639Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.BJOG2021
33550297The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.Fetal Diagn Ther2021
32185046Second-trimester prenatal diagnosis of Nager syndrome with a deletion including <i>SF3B4</i> detected by chromosomal microarray.Clin Case Rep2020
31962312Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.Fetal Diagn Ther2020
29464339New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Hum Genet2019
31393021Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.Prenat Diagn2019
31018999Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).J Med Genet2019
30293990Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.Genet Med2019
28918392CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.J Med Genet2018
28029058Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.J Obstet Gynaecol2017
27844144Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet2017
26059843Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Eur J Hum Genet2016
27550507Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.Prenat Diagn2016
26757983Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA.Eur J Hum Genet2016
26945007Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.Hum Mol Genet2016
25157891Prenatal exome sequencing for fetuses with structural abnormalities: the next step.Ultrasound Obstet Gynecol2015
26437029Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nat Genet2015
25889064Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling.BMC Med Genomics2015
25833368Re: Diagnosis of fetal submicroscopic chromosomal abnormalities in failed array CGH samples: copy number by sequencing as an alternative to microarrays for invasive fetal testing. K. Cohen, A. Tzika, H. Wood, S. Berri, P. Roberts, G. Mason and E. Sheridan. Ultrasound Obstet Gynecol 2015; 45: 394-401.Ultrasound Obstet Gynecol2015
23869996How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings?J Matern Fetal Neonatal Med2014
24943865BAC chromosomal microarray for prenatal detection of chromosome anomalies in fetal ultrasound anomalies: an economic evaluation.Fetal Diagn Ther2014
24591235Reply: To PMID 23512800.Ultrasound Obstet Gynecol2014
24715413Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.Am J Med Genet A2014
24464918Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy.Prenat Diagn2014
24476948Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.Hum Mol Genet2014
23859082Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis.BJOG2014
23512800Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.Ultrasound Obstet Gynecol2013
23941431Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants.BJOG2013
21792232Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.Eur J Hum Genet2012
2288784317q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.Am J Med Genet A2012
22887694Microarray comparative genomic hybridization in prenatal diagnosis: a review.Ultrasound Obstet Gynecol2012
22882680Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.BJOG2012
22508381The introduction of arrays in prenatal diagnosis: a special challenge.Hum Mutat2012
22333898TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.Eur J Hum Genet2012
20658510Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.Ultrasound Obstet Gynecol2011
21386874Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.Eur J Hum Genet2011
21456047Copy number profiling in von Hippel-Lindau disease renal cell carcinoma.Genes Chromosomes Cancer2011
19809484The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Eur J Hum Genet2010
20578233Design and validation of a metabolic disorder resequencing microarray (BRUM1).Hum Mutat2010
20132918Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?Eur J Med Genet2010
20064152Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.Br J Haematol2010
19249392Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.Eur J Med Genet2009
19760623Microarray based analysis of 3p25-p26 deletions (3p- syndrome).Am J Med Genet A2009
19388127Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.Hum Mutat2009
18064647Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: a study by the United Kingdom Cancer Cytogenetics and the Children's Cancer and Leukaemia Group.Genes Chromosomes Cancer2008
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Collaborators

Wellcome Sanger Institute
Co-authored papers 9
University of Newcastle upon Tyne.
Co-authored papers 6
The University of Melbourne, The Royal Children's Hospital
Co-authored papers 5
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 4
Columbia University
Co-authored papers 3
Radboud University Medical Center
Co-authored papers 3
Radboud University Medical Center
Co-authored papers 2
Clinical Geneticist, Genetic Health Service
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Institute of Cancer Research
Co-authored papers 2
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 2
Oxford Brookes University
Co-authored papers 2
Guy's Hospital
Co-authored papers 2
Oxford Brookes University
Co-authored papers 2
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
University of Cambridge
Co-authored papers 1
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 1
Belfast City Hospital
Co-authored papers 1
Cambridge University Hospitals NHS Foundation
Co-authored papers 1
Co-authored papers 1
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
UCL Great Ormond Street Institute of Child Health
Co-authored papers 1
King's College London
Co-authored papers 1
Western General Hospital
Co-authored papers 1
Queen Mary University of London
Co-authored papers 1
Guy's and St Thomas' Hospital
Co-authored papers 1
Newcastle University
Co-authored papers 1
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Co-authored papers 1