PubRank

Nine V Knoers

Author PubWeight™ 30.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006 5.92
2 Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003 5.43
3 Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007 3.54
4 Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. J Clin Oncol 2013 2.36
5 Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 2007 1.91
6 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 2015 1.60
7 Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus. Nephrol Dial Transplant 2004 1.58
8 Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 2012 1.50
9 Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A 2008 1.24
10 The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet 2011 1.01
11 A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 2009 0.97
12 Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study. Birth Defects Res A Clin Mol Teratol 2010 0.96
13 Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia. Biochim Biophys Acta 2007 0.83
14 Factors determining uptake of invasive testing following first-trimester combined testing. Prenat Diagn 2013 0.82
15 Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. Nephrol Dial Transplant 2008 0.79
16 Relief of nocturnal enuresis by desmopressin is kidney and vasopressin type 2 receptor independent. J Am Soc Nephrol 2007 0.76