Shirley Henderson

Maastricht University — Netherlands

Medicine · Health Sciences

32h-index3.7kcitations105works51.72yr avg
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Research Topics

Hemoglobinopathies and Related Disorders(34), Iron Metabolism and Disorders(22), Cancer Genomics and Diagnostics(18), Genomics and Rare Diseases(18), Prenatal Screening and Diagnostics(12)

Publications101 total

The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Gastric Cancer·2025· 3 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Nature Medicine·2024· 148 citedOpen Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics·2023· 18 citedOpen Access
Age and Sex Differences in the Genetics of Cardiomyopathy
Journal of Cardiovascular Translational Research·2023· 20 citedOpen Access
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications·2023· 21 citedOpen Access
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Genome Medicine·2023· 23 citedOpen Access
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
Scientific Reports·2023· 7 citedOpen Access
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Brain·2023· 55 citedOpen Access
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Brain·2023· 25 citedOpen Access
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Brain·2023· 21 citedOpen Access
Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population
Brain Communications·2023· 7 citedOpen Access
Insights for precision healthcare from the 100,000 Genomes Cancer Programme
Research Square (Research Square)·2022· 1 citedOpen Access
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Nature Communications·2022· 31 citedOpen Access
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Genetics in Medicine·2022· 25 citedOpen Access
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Nature Genetics·2022· 70 citedOpen Access
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
npj Genomic Medicine·2022· 21 citedOpen Access
Mendelian gene identification through mouse embryo viability screening
Genome Medicine·2022· 14 citedOpen Access
Assessing the digenic model in rare disorders using population sequencing data
European Journal of Human Genetics·2022· 7 citedOpen Access
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Frequent Co-authors

J. Louise Jones(26), Nirupa Murugaesu(26), Angela Hamblin(26), D. Perez-Gil(25), J. Pullinger(25), Tim Hubbard(24), Mark J. Caulfield(24), John C. Ambrose(24), Afshan Siddiq(24), Marta Bleda(24), Melis Kayikci(24), L. Lahnstein(24), Alona Sosinsky(23), C. R. Boustred(23), Helen Brittain(23), Loukas Moutsianas(23), Anna C. Need(23), T. Rahim(23), Richard H. Scott(22), Christine Patch(22)