Jenny Douglas

Institute of Cancer Research — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

28h-index4.1kcitations39works0.02yr avg
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Research Topics

Genetic Syndromes and Imprinting(8), Cancer Genomics and Diagnostics(6), RNA modifications and cancer(6), Genomics and Chromatin Dynamics(5), Epigenetics and DNA Methylation(5)

Publications39 total

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Oncotarget·2018· 3 citedOpen Access
lipid synthesizing machine Metabolic regulation in the lactating mammary gland: a
2016
Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype
American Journal of Medical Genetics Part A·2013· 145 citedOpen Access
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
QUT ePrints (Queensland University of Technology)·2013Open Access
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Nature·2012· 256 citedOpen Access
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
Breast Cancer Research and Treatment·2012· 51 citedOpen Access
Stratification of Wilms tumor by genetic and epigenetic analysis
Oncotarget·2012· 112 citedOpen Access
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Oncotarget·2011· 169 citedOpen Access
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Nature Genetics·2011· 168 citedOpen Access
<i>DICER1</i> syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
Journal of Medical Genetics·2011· 361 citedOpen Access
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma
Familial Cancer·2010· 59 cited
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies <i>HACE1</i> as a putative Wilms tumour susceptibility gene
Journal of Medical Genetics·2009· 50 cited
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
Nature Genetics·2008· 197 cited
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
Journal of Medical Genetics·2007· 127 cited
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
Nature Genetics·2007· 91 citedOpen Access
PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations
American Journal of Medical Genetics Part A·2006· 54 cited
Partial <i>NSD1</i> deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
Journal of Medical Genetics·2005· 46 citedOpen Access
Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
The American Journal of Human Genetics·2005· 334 citedOpen Access
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
Journal of Medical Genetics·2005· 101 citedOpen Access
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23‐q24
Annals of Neurology·2005· 31 cited
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Frequent Co-authors

Nazneen Rahman(23), Sandra Hanks(15), Anne R. Murray(10), Pamela Rabbitts(10), Katrina Tatton‐Brown(8), Trevor Cole(7), I. Karen Temple(7), Kim Coleman(6), Elise Ruark(6), Katie Snape(6), Clare Turnbull(5), Charles Stiller(5), Valérie Cormier‐Daire(5), Chey Loveday(5), Sheila Seal(5), Jonas Bergh(5), Barry Pizer(4), Kathy Pritchard‐Jones(4), Helen E. Hughes(4), Emma Ramsay(4)