Publications by authors named "Jonathan J Waters"

20Publications

Inherited 2q23.1 microdeletions involving the locus.

Mol Genet Genomic Med 2017 Sep 8;5(5):608-613. Epub 2017 Aug 8.

North East Thames Regional Genetics ServiceGreat Ormond Street HospitalLondonWC1N 3JHUK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606852PMC
September 2017

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.

Case Rep Genet 2016 3;2016:2501741. Epub 2016 Feb 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2016/2501741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756132PMC
March 2016

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.

Prenat Diagn 2014 Jan 14;34(1):98-101. Epub 2013 Nov 14.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352329PMC
January 2014

The idic(15) syndrome: expanding the phenotype.

Am J Med Genet A 2012 Jun 14;158A(6):1505-8. Epub 2012 May 14.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35366DOI Listing
June 2012

The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008.

Prenat Diagn 2012 Jun 9;32(6):596-601. Epub 2012 May 9.

Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.3866DOI Listing
June 2012

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011

Prenatal diagnosis of monosomy 18p involving a jumping translocation.

Prenat Diagn 2008 Aug;28(8):764-6

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2030DOI Listing
August 2008

Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS.

Prenat Diagn 2006 Oct;26(10):892-7

Cytogenetics Laboratory, NE Thames Regional Genetics Service, Gt Ormond St Hospital, London WC1N 3BG, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1519DOI Listing
October 2006

Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.

Prenat Diagn 2004 Oct;24(10):790-5

Fetal Medicine Unit, Elizabeth Garrett Anderson and Obstetric Hospital, University College London Hospitals, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.985
Publisher Site
http://dx.doi.org/10.1002/pd.985DOI Listing
October 2004

Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes.

Am J Obstet Gynecol 2003 Oct;189(4):980-5

Department of Radiology, University of California, San Francisco 94115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/s0002-9378(03)00721-xDOI Listing
October 2003