Carsten Bergmann

Overview

Best Publications

• 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

• Polycystic kidney disease.

  Carsten Bergmann;Lisa M. Guay-Woodford;Peter C. Harris;Shigeo Horie

  623
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  499
  Citations

• Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

  Wybo Dondorp;Guido de Wert;Yvonne Bombard;Diana W Bianchi

  457
  Citations

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  404
  Citations

• Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

  Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  397
  Citations

• Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

  Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  391
  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

• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

  Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  314
  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

• Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

  K Janssens;F Vanhoenacker;M Bonduelle;L Verbruggen

  300
  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

• Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

  Jan Senderek;Carsten Bergmann;Claudia Stendel;Jutta Kirfel

  250
  Citations

• Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

  Valeska Frank;Anneke I. den Hollander;Nadina Ortiz Brüchle;Marijke N. Zonneveld

  240
  Citations

• Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

  Carsten Bergmann;Jan Senderek;Beate Sedlacek;Ioannis Pegiazoglou

  237
  Citations

• Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

  Carsten Bergmann;Jennifer von Bothmer;Nadina Ortiz Brüchle;Andreas Venghaus

  236
  Citations

• Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

  Tobias Eisenberger;Christine Neuhaus;Arif O. Khan;Christian Decker

  232
  Citations

• ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

  Sylvia Hoff;Jan Halbritter;Daniel Epting;Valeska Frank

  216
  Citations

• Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

  Sebastian Walpole;Sebastian Walpole;Antonia L. Pritchard;Antonia L. Pritchard;Colleen M. Cebulla;Robert Pilarski

  204
  Citations