Jan Senderek

Jan Senderek publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Jan Senderek sits on this spectrum.

Jan Senderek D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Jan Senderek sits on this spectrum.

Overview

Best Publications

• Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

  Stephan Züchner;Stephan Züchner;Irina V Mersiyanova;Maria Muglia;Nisrine Bissar-Tadmouri;Nisrine Bissar-Tadmouri

  1907
  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

• 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

• 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

• Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

  Michaela Auer-Grumbach;Andrea Olschewski;Lea Papić;Hannie Kremer

  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 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

• Mutations in **FAM134B**, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

  Ingo Kurth;Torsten Pamminger;J Christopher Hennings;Désirée Soehendra

  258
  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

• Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

  Jan Senderek;Jan Senderek;Juliane S. Müller;Marina Dusl;Tim M. Strom

  194
  Citations

• Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

  Jan Senderek;Jan Senderek;Sean M. Garvey;Sean M. Garvey;Michael Krieger;Velina Guergueltcheva

  193
  Citations

• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

  Matthis Synofzik;Anne S Soehn;Janina Gburek-Augustat;Julia Schicks

  191
  Citations

• PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

  Carsten Bergmann;Jan Senderek;Fabian Küpper;Frank Schneider

  187
  Citations

• Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

  Jan Senderek;Carsten Bergmann;Vincent T Ramaekers;Eva Nelis

  182
  Citations

• Transcriptional regulator PRDM12 is essential for human pain perception

  Ya Chun Chen;Michaela Auer-Grumbach;Shinya Matsukawa;Manuela Zitzelsberger

  180
  Citations

• Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

  Claudia Stendel;Andreas Roos;Tine Deconinck;Jorge Pereira

  167
  Citations

• Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

  Carsten Bergmann;Klaus Zerres;Jan Senderek;Sabine Rudnik‐Schöneborn

  156
  Citations