Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study
Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar, Arina Puzriakova et autres
10 citationsGenetics in Medicine
K. Savage
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73Publications signalées
4987Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesCancer Genomics and DiagnosticsGenetic and Kidney Cyst DiseasesRNA Research and SplicingGenetic Neurodegenerative Diseases
Publications récentes
Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study
Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar, Arina Puzriakova et autres
2 citationsmedRxiv
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Elhussein A. Elhassan, Kane E. Collins, Sophia Heneghan, Edmund Gilbert et autres
0 citationsJournal of Nephrology
Origins and impact of extrachromosomal DNA
Chris Bailey, Oriol Pich, Kerstin Thol, Jens Luebeck et autres
162 citationsNature
Acquired Hemophagocytic Lymphohistiocytosis (HLH) From Underlying Monoclonal Gammopathy of Unknown Significance (MGUS)
K. Savage, S. Toth, Robert Plambeck
0 citations
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Eleanor G. Seaby, Gary Leggatt, Guo Cheng, N. Simon Thomas et autres
5 citationsGenetics in Medicine
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Ria Schönauer, Dana Sierks, Melissa M. Boerrigter, Tabinda Jawaid et autres
7 citationsGastroenterology
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Lauren Jeffries, Emily K. Mis, Kirsty McWalter, Sandra Donkervoort et autres
11 citationsGenetics in Medicine
A novel likely pathogenic CLCN5 variant in Dent’s disease
Samantha Hayward, James E. Norton, Lucy Bownass, Caroline Platt et autres
3 citationsBMC Nephrology
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Laura R. Claus, Chuan Chen, Jennifer L. Stallworth, Joshua L. Turner et autres
42 citationsKidney International
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Eva Niggl, Arjan Bouman, Lauren C. Briere, Remco M. Hoogenboezem et autres
22 citationsThe American Journal of Human Genetics
Age and Sex Differences in the Genetics of Cardiomyopathy
Oyediran Akinrinade, Robert Lesurf, J. C. Ambrose, Prabhu Arumugam et autres
23 citationsJournal of Cardiovascular Translational Research
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