Klaus Zerres

Overview

Best Publications

• Germ-line mutations in nonsyndromic pheochromocytoma.

  Hartmut P.H. Neumann;Birke Bausch;Sarah R. McWhinney;Bernhard U. Bender

  1691
  Citations

• Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

  L. M. Brzustowicz;L. M. Brzustowicz;T. Lehner;T. Lehner;L. H. Castilla;L. H. Castilla;G. K. Penchaszadeh;G. K. Penchaszadeh

  746
  Citations

• PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

  Luiz F. Onuchic;Laszlo Furu;Yasuyuki Nagasawa;Xiaoying Hou

  641
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

• Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

  Brunhilde Wirth;M. Herz;A. Wetter;S. Moskau

  476
  Citations

• Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

  Katja Grohmann;Markus Schuelke;Alexander Diers;Katrin Hoffmann

  395
  Citations

• Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

  Carsten Bergmann;Manfred Fliegauf;Nadina Ortiz Brüchle;Valeska Frank

  379
  Citations

• Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

  Carsten Bergmann;Jan Senderek;Ellen Windelen;Fabian Küpper

  355
  Citations

• Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

  Y. Okada;X. Sim;X. Sim;M. J. Go;J. Y. Wu;J. Y. Wu

  350
  Citations

• ENHANCED APOPTOTIC CELL DEATH OF RENAL EPITHELIAL CELLS IN MICE LACKING TRANSCRIPTION FACTOR AP-2BETA

  Markus Moser;Armin Pscherer;Christina Roth;Jutta Becker

  334
  Citations

• Genetic loci influencing kidney function and chronic kidney disease

  John C Chambers;Weihua Zhang;Graham M Lord;Graham M Lord;Pim van der Harst

  325
  Citations

• Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

  Klaus Zerres;Gabi Mücher;Jutta Becker;Carsten Steinkamm

  316
  Citations

• A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

  Klaus Zerres;Sabine Rudnik-Schöneborn;Eric Forrest;Anna Lusakowska

  310
  Citations

• Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

  Jan Senderek;Carsten Bergmann;Susanne Weber;Uwe-Peter Ketelsen

  308
  Citations

• Mapping of the Gene for Autosomal Recessive Polycystic Kidney-disease (arpkd) To Chromosome 6p21-cen

  K. Zerres;Yves Pirson;G. Mucher;L. Bachner

  298
  Citations

• Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

  J. Senderek;M. Krieger;C. Stendel;C. Bergmann

  291
  Citations

• Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

  Martin Zenker;Julia Mayerle;Markus M Lerch;Andreas Tagariello

  286
  Citations

• Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

  Jijun Wan;Michael Yourshaw;Hafsa Mamsa;Sabine Rudnik-Schöneborn

  264
  Citations

• The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

  Sandro Rossetti;Sarah Burton;Lana Strmecki;Gregory R. Pond

  262
  Citations

• Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis

  K Zerres;M C Völpel;H Weiss

  260
  Citations