William G. van’t Hoff

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton et al. · New England Journal of Medicine · 2021 · 469 citations · Full text

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Sandro Rossetti, Vickie Kubly, Mark Consugar et al. · Kidney International · 2009 · 289 citations · Full text

Urology, Gene Dosage, Genetic Disorder +13

Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

Coralie Bingham, Michael Bulman, Sian Ellard et al. · The American Journal of Human Genetics · 2001 · 284 citations · Full text

Glomerular Disease, Glomerulonephritis, Renal Disease +12

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

Coralie Bingham, Sian Ellard, William G. van’t Hoff et al. · Kidney International · 2003 · 158 citations · Full text

Glomerulonephritis, Urology, Renal Function +8

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

Simon Waller, Tom Kurzawinski, Lewis Spitz et al. · European Journal of Pediatrics · 2004 · 103 citations

Genotype/phenotype Correlation, Neonatal Severe Hyperparathyroidism, Parathyroid Hormone +5