Jonathan J. Waters

Great Ormond Street Hospital For Children NHS Foundation Trust
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Journal: Frontiers in cellular neuroscience

Published: July 21, 2020

Diagnostic implications of genetic copy number variation in epilepsy plus.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Journal: Epilepsia

Published: May 18, 2018

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Journal: Molecular syndromology

Published: July 07, 2017

Inherited 2q23.1 microdeletions involving the MBD5 locus.

Inherited 2q23.1 microdeletions involving the MBD5 locus.

Journal: Molecular genetics & genomic medicine

Published: February 01, 2017

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

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

Journal: Case reports in genetics

Published: November 10, 2015

Trisomy 21 mid-trimester amniotic fluid induced pluripotent stem cells maintain genetic signatures during reprogramming: implications for disease modeling and cryobanking.

Trisomy 21 mid-trimester amniotic fluid induced pluripotent stem cells maintain genetic signatures during reprogramming: implications for disease modeling and cryobanking.

Journal: Cellular reprogramming

Published: August 28, 2014

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

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

Journal: Prenatal diagnosis

Published: July 29, 2013

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

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

Journal: Prenatal diagnosis

Published: May 11, 2012

Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience.

Re: Incidence of discrepant results between QF-PCR and karyotype testing in chorion villus samples: UK experience.

Journal: Prenatal diagnosis

Published: May 10, 2012

Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases.

Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases.

Journal: Prenatal diagnosis

Published: December 28, 2011

The idic(15) syndrome: expanding the phenotype.

The idic(15) syndrome: expanding the phenotype.

Journal: American journal of medical genetics. Part A

Published: October 20, 2011

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Last Updated: 09/26/2026