K. Savage

Genomics England — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index4.5kcitations73works20.32yr avg
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Research Topics

Cancer Genomics and Diagnostics(14), Genomics and Rare Diseases(12), Epigenetics and DNA Methylation(6), RNA Research and Splicing(6), Genetic factors in colorectal cancer(6)

Publications64 total

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study
Genetics in Medicine·2025· 4 citedOpen Access
Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study
2025· 2 citedOpen Access
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Journal of Nephrology·2025Open Access
Origins and impact of extrachromosomal DNA
Nature·2024· 112 citedOpen Access
Acquired Hemophagocytic Lymphohistiocytosis (HLH) From Underlying Monoclonal Gammopathy of Unknown Significance (MGUS)
2024
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 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
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
The American Journal of Human Genetics·2023· 39 citedOpen Access
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
Kidney International·2023· 25 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
The genomic landscape of familial glioma
Science Advances·2023· 44 citedOpen Access
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Brain·2023· 55 citedOpen Access
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Human Genetics and Genomics Advances·2023· 12 citedOpen Access
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Brain·2023· 25 citedOpen Access
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Frequent Co-authors

Marta Bleda(44), Tim Hubbard(44), Melis Kayikci(44), Nirupa Murugaesu(44), D. Perez-Gil(44), J. Pullinger(44), T. Rahim(44), S. E. A. Leigh(43), Loukas Moutsianas(42), A. Sieghart(42), Richard H. Scott(41), Afshan Siddiq(41), Anna C. Need(41), Mark J. Caulfield(41), Christine Patch(40), Alona Sosinsky(40), C. R. Boustred(40), F. Boardman-Pretty(39), John C. Ambrose(39), Helen Brittain(39)