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Nine Knoers | Researchclopedia

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Nine Knoers

University Medical Center Groningen

123

Works

6,546

Citations

47

h-index

75

i10-index

Research Topics

Genomics and Rare Diseases Genetic and Kidney Cyst Diseases Renal and related cancers

Affiliations

University Medical Center Groningen2018–2025

Radboud University Nijmegen1987–2013

University of Groningen2018–2025

Utrecht University2015–2021

Cambridge University Hospitals NHS Foundation Trust2016–2016

Top Works

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff,Katrine M. Johannesen,et al.

2017567 citations

Ion Transport and Channel Regulation

Ion channel regulation and function

Drug Repurposing for Rare Diseases

Helen I. Roessler,Nine Knoers,et al.

2021270 citations

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Louise S. Bicknell,Ernie M.H.F. Bongers,et al.

2011250 citations

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup,Sophie Saunier,et al.

2011235 citations

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová,J. J. T. van Harssel,et al.

2012199 citations

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]

Lothar Károlyi,Martin Konrad,et al.

1997190 citations

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

Ans M.W. van den Ouweland,Jos Dreesen,et al.

1992186 citations

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Glen R. Monroe,G. W. J. Frederix,et al.

2016183 citations

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease

Alex Odermatt,Peter E.M. Taschner,et al.

1997173 citations