J. Waters

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Aliases
Jonathan J Waters, Jonathan J. Waters, Jonathan Waters, J. J. Waters, J. Waters, J Waters, J J Waters
Publication record
57 papers · 1,329 citations · H-index 20

PAPERS

Gene Networks in the Developing Zebrafish Retina 8. Karis Kosar and Kari Nejak-Bowen. Determining the effects of Wnt signaling in the alleviation of cholestasis via the promotion of hepatocyte transdifferentiation
20200 citationsauthor #22
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation
202011 citationsauthor #7
Diagnostic implications of genetic copy number variation in epilepsy plus
201985 citationsauthor #33
An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly
20171 citationsauthor #5
Inherited 2q23.1 microdeletions involving the MBD5 locus
20178 citationsauthor #3
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy
20177 citationsauthor #8
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
20165 citationsauthor #5
Cytogenetics in acute leukemia
20150 citationsauthor #3
Trisomy 21 Mid-Trimester Amniotic Fluid Induced Pluripotent Stem Cells Maintain Genetic Signatures During Reprogramming: Implications for Disease Modeling and Cryobanking
201416 citationsauthor #8
Acute Promyelocytic Leukemia Characterization of Cryptic Rearrangements and Variant Translocations in
20130 citationsauthor #3
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization
201318 citationsauthor #4
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
20125 citationsauthor #2
The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008
201219 citationsauthor #2
The idic(15) syndrome: Expanding the phenotype
20123 citationsauthor #3
Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
201234 citationsauthor #4
Re: Incidence of discrepant results between QF‐PCR and karyotype testing in chorion villus samples: UK experience
20121 citationsauthor #2
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
201134 citationsauthor #8
QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region
201075 citationsauthor #3
Array CGH in patients with cleft lip and/or palate
20100 citationsauthor #7
Prenatal diagnosis of monosomy 18p involving a jumping translocation
20088 citationsauthor #2
observational study abnormalities by rapid aneuploidy screening: prenatal diagnosis of chromosomal Fetal nuchal translucency scan and early
20081 citationsauthor #5
Complete discrepancy between QF‐PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS
200738 citationsauthor #1
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study
200677 citationsauthor #4
" " III II ' Aneuploidy Screening on Uncultul " l ' d An 1 niucylt ' S in Sl ' Il ' l ' tl ' d Groups-A Clinical Audit . 1 \ t ' rl '
20060 citationsauthor #2
OP01.21: Rapid aneuploidy exclusion using qfPCR—is this the way forward for prenatal karyotyping?
20060 citationsauthor #3
The future of prenatal diagnosis : Rapid testing or full karyotype? an audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's syndrome testing
200618 citationsauthor #4
Complete discrepancy between abnormal fetal karyotypes predicted by QF‐PCR rapid testing and karyotyped cultured cells in a first‐trimester CVS
200620 citationsauthor #1
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment.
2005134 citationsauthor #4
Prenatal diagnosis – Authors' reply
20050 citationsauthor #4
The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing
200568 citationsauthor #4
Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second‐trimester amniocenteses
200460 citationsauthor #2
High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14
200411 citationsauthor #3
A DA/DAPI positive human 14p heteromorphism defined by fluorescence in-situ hybridisation using chromosome 15-specific probes D15Z1 (satellite III) and p-TRA-25 (alphoid).
200415 citationsauthor #3
P247: Rapid karyotyping or full karyotyping for prenatal diagnosis: results of a prospective study in a London teaching hospital
20030 citationsauthor #3
Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories
200153 citationsauthor #1
Detailed mapping of a congenital heart disease gene in chromosome 3p25
200068 citationsauthor #3
The Principles of Clinical Cytogenetics
20005 citationsauthor #1
H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes.
199949 citationsauthor #3
Trends in cytogenetic prenatal diagnosis in the UK: results from UKNEQAS external audit, 1987–1998
199926 citationsauthor #1
Demystified ... FISH.
19984 citationsauthor #1
Characterization of cryptic rearrangements and variant translocations in acute promyelocytic leukemia.
1997145 citationsauthor #9
Human Chromosome Preparation
19976 citationsauthor #1
Immunofluorescence and molecular cytogenetics analysis of meiotic chromosome synapsis, recombination and segregation in a human male carrier of a complex structural chromosome rearrangement
19970 citationsauthor #3
Premature ovarian failure and mental retardation in a female with a 46,X,ins ,?dup karyotype
19970 citationsauthor #9
Genetic Laboratory Investigations
19951 citationsauthor #1
Rapid interphase FISH diagnosis of trisomy 18 on blood smears.
19920 citationsauthor #2
Molecular cytogenetics of Prader-Willi and Angelman syndromes.
19920 citationsauthor #5
Rapid interphase FISH diagnosis of trisomy 18 on blood smears.
19927 citationsauthor #2
Robertsonian translocation and an extra microchromosome: independent origin identified by in situ hybridization
19918 citationsauthor #2
Chromosome in situ suppression hybridisation in clinical cytogenetics.
199127 citationsauthor #4
Trisomy 20q caused by der (X)t(X;20)(q28;q11.2).
199013 citationsauthor #1
Frequency and extent of allelic loss in the short arm of chromosome 3 in nonsmall‐cell lung cancer
198967 citationsauthor #9
80 A search for 3p deletions using an RFLP mapped to 3p21 in a variety of ovarian tumors
19890 citationsauthor #1
Chromosomal translocations involving the T-cell receptor delta chain locus and two loci on the short arm of chromosome 11.
19890 citationsauthor #7
Cytogenetic abnormalities in human small cell lung carcinoma: cell lines characterized for myc gene amplification.
198838 citationsauthor #1
The T-ALL specific t(11;14)(p13;q11) translocation breakpoint cluster region is located near to the Wilms' tumour predisposition locus.
198820 citationsauthor #8
A scanning electron microscopy study of double minutes from a human tumour cell line.
198720 citationsauthor #2

TIMELINE

1987 20 citations

1988 58 citations

1989 67 citations

1990 13 citations

1991 35 citations

1992 7 citations

1995 1 citations

1997 151 citations

1998 4 citations

1999 75 citations

2000 73 citations

2001 53 citations

2003 0 citations

2004 86 citations

2005 202 citations

2006 115 citations

2007 38 citations

2008 9 citations

2010 75 citations

2011 34 citations

2012 62 citations

2013 18 citations

2014 16 citations

2015 0 citations

2016 5 citations

2017 16 citations

2019 85 citations

2020 11 citations

J. Waters

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