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Jenny B. Douglas

Observed names: J Douglas, J. Douglas, J.B. Douglas, Jenny Douglas
OpenAlex ID: A5110131841
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
2004 · Sandra Hanks, Kim Coleman, et al. · Nature Genetics · 605
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
2011 · Ingrid Slade, Chiara Bacchelli, et al. · Journal of Medical Genetics · 367
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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
2005 · Katrina Tatton-Brown, Jenny Douglas, et al. · The American Journal of Human Genetics · 339
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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
2003 · Jenny Douglas, Sandra Hanks, et al. · The American Journal of Human Genetics · 301
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Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
2012 · Elise Ruark, Katie Snape, et al. · Nature · 249
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Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis
2003 · Sandra Hanks, Sarah Adams, et al. · The American Journal of Human Genetics · 235
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
2008 · Richard H Scott, Jenny Douglas, et al. · Nature Genetics · 198
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
2011 · Katie Snape, Sandra Hanks, et al. · Nature Genetics · 168
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
2011 · Katrina Tatton-Brown, Sandra Hanks, et al. · Oncotarget · 164
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Brown adipose tissue thermogenesis is ‘suppressed’ during lactation in mice
1982 · Paul Trayhurn, Jenny B. Douglas, et al. · Nature · 153
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
2013 · Katrina Tatton‐Brown, Anne Murray, et al. · American Journal of Medical Genetics Part A · 148
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Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
2007 · R H Scott, J Douglas, et al. · Journal of Medical Genetics · 127
Homozygous deletions at 3p12 in breast and lung cancer
1998 · Vasi Sundaresan, Grace Chung, et al. · Oncogene · 113
Stratification of Wilms tumor by genetic and epigenetic analysis
2012 · Richard H. Scott, Anne Murray, et al. · Oncotarget · 111
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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
2005 · K Tatton-Brown, J Douglas, et al. · Journal of Medical Genetics · 102
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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
2007 · Jenny Douglas, Deirdre Cilliers, et al. · Nature Genetics · 95
A submicroscopic homozygous deletion at the D3S3 locus in a cell line isolated from a small cell lung carcinoma
1990 · Pamela Rabbitts, Jonas Bergh, et al. · Genes Chromosomes and Cancer · 74
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma
2010 · Ingrid Slade, Anne Murray, et al. · Familial Cancer · 60
Frequency and extent of allelic loss in the short arm of chromosome 3 in nonsmall‐cell lung cancer
1989 · Pamela Rabbitts, Jenny Douglas, et al. · Genes Chromosomes and Cancer · 57
Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13
2003 · Nazneen Rahman, Melanie Dunstan, et al. · The American Journal of Human Genetics · 55
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PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations
2006 · Carmel McConville, Sarah Reid, et al. · American Journal of Medical Genetics Part A · 54
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
2012 · Katie Snape, Elise Ruark, et al. · Breast Cancer Research and Treatment · 52
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene
2009 · I Slade, P Stephens, et al. · Journal of Medical Genetics · 52
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
2005 · J Douglas, K Tatton-Brown, et al. · Journal of Medical Genetics · 47
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Molecular characterization of a large homozygous deletion in the small cell lung cancer cell line U2020: A strategy for cloning the putative tumor suppressor gene
1992 · Farida Latif, Kalman Tory, et al. · Genes Chromosomes and Cancer · 43
Works count: 38
Citation count: 4,107
H-index: 28
I10-index: 29
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