Robert M.W. Hofstra

Overview

Best Publications

• Evidence based selection of housekeeping genes

  Hendrik J. M. de Jonge;Rudolf S. N. Fehrmann;Eveline S. J. M. de Bont;Robert M. W. Hofstra

  831
  Citations

• Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy

  Paul A. van der Zwaag;Ingrid A. W. van Rijsingen;Angeliki Asimaki;Jan D. H. Jongbloed

  510
  Citations

• Familial endometrial cancer in female carriers of MSH6 germline mutations

  J Wijnen;W de Leeuw;H Vasen;H van der Klift

  499
  Citations

• Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

  Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  493
  Citations

• C-elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging

  Tjakko J. van Ham;Karen L. Thijssen;Rainer Breitling;Robert M. W. Hofstra

  461
  Citations

• Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

  Rudolf S. N. Fehrmann;Ritsert C. Jansen;Jan H. Veldink;Harm-Jan Westra

  427
  Citations

• Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  J.Peter van Tintelen;Mark M. Entius;Zahurul A. Bhuiyan;Roselie Jongbloed

  417
  Citations

• PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

  I Matera;T Bachetti;F Puppo;M Di Duca

  384
  Citations

• Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant

  Maran J.W. Berends;Ying Wu;Rolf H. Sijmons;Rob G.J. Mensink

  340
  Citations

• CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

  J E H Bergman;N Janssen;L H Hoefsloot;M C J Jongmans

  327
  Citations

• Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

  Aida M. Bertoli-Avella;Elisabeth Gillis;Hiroko Morisaki;Judith M A Verhagen

  306
  Citations

• Segregation at three loci explains familial and population risk in Hirschsprung disease

  Stacey Bolk Gabriel;Rémi Salomon;Anna Pelet;Misha Angrist

  293
  Citations

• Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

  Jaap I. van Waning;Kadir Caliskan;Yvonne M. Hoedemaekers;Karin Y. van Spaendonck-Zwarts

  285
  Citations

• Mutation update on the CHD7 gene involved in CHARGE syndrome

  Nicole Janssen;Jorieke E. H. Bergman;Morris A. Swertz;Lisbeth Tranebjaerg

  284
  Citations

• Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.

  Gerben Duns;Eva van den Berg;Inge van Duivenbode;Jan Osinga

  279
  Citations

• Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability

  Eileen Sproat Emison;Merce Garcia-Barcelo;Elizabeth A. Grice;Francesca Lantieri

  270
  Citations

• Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

  Renee C. Niessen;Robert M. W. Hofstra;Helga Westers;Marjolijn J. L. Ligtenberg

  247
  Citations

• Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

  Carla Oliveira;Jantine L. Westra;Diego Arango;Miina Ollikainen

  241
  Citations

• A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

  Stacey Bolk;Anna Pelet;Robert M. W. Hofstra;Misha Angrist

  237
  Citations

• Low-penetrance Genes and Their Involvement in Colorectal Cancer Susceptibility

  Mirjam M. de Jong;Ilja M. Nolte;Gerard J. te Meerman;Winette T. A. van der Graaf

  235
  Citations