Andreas R. Janecke

Andreas R. Janecke publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Andreas R. Janecke sits on this spectrum.

Andreas R. Janecke D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Andreas R. Janecke sits on this spectrum.

Overview

Best Publications

• Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

  Aileen Sandilands;Ana Terron-Kwiatkowski;Peter R Hull;Gráinne M O'Regan

  800
  Citations

• GJB2 mutations and degree of hearing loss: a multicenter study.

  Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  701
  Citations

• Eculizumab for atypical hemolytic-uremic syndrome.

  Jens Nürnberger;Thomas Philipp;Oliver Witzke;Anabelle Opazo Saez

  430
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

  Thomas Müller;Michael W Hess;Natalia Schiefermeier;Kristian Pfaller

  379
  Citations

• Variants in CPA1 are strongly associated with early onset chronic pancreatitis

  Heiko Witt;Sebastian Beer;Jonas Rosendahl;Jian Min Chen;Jian Min Chen

  324
  Citations

• Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

  Robert Gruber;Peter M. Elias;Debra Crumrine;Tzu Kai Lin

  280
  Citations

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  276
  Citations

• Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

  Andreas R Janecke;Debra A Thompson;Gerd Utermann;Christian Becker

  274
  Citations

• Oculo-auriculo-vertebral spectrum (OAVS) : clinical evaluation and severity scoring of 53 patients and proposal for a new classification

  Christiane Tasse;Stefan Böhringer;Sven Fischer;Hermann-Josef Lüdecke

  265
  Citations

• Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

  Cecilia Giunta;Nursel H. Elçioglu;Beate Albrecht;Georg Eich

  234
  Citations

• TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

  Lijia Huang;Katarzyna Szymanska;Victor L. Jensen;Andreas R. Janecke

  228
  Citations

• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

  Claudia Dafinger;Max Christoph Liebau;Solaf Mohamed Elsayed;Yorck Hellenbroich

  221
  Citations

• Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

  Ekkehart Lausch;Andreas Janecke;Matthias Bros;Stefanie Trojandt

  177
  Citations

• Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

  Caroline L. Wiegerinck;Andreas R. Janecke;Kerstin Schneeberger;Georg F. Vogel

  177
  Citations

• Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

  Christian Guelly;Peng Peng Zhu;Lea Leonardis;Lea Papić

  155
  Citations

• Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

  Zimoń M;Baets J;Almeida-Souza L;De Vriendt E

  150
  Citations

• Complement Factor H–Related Protein 1 Deficiency and Factor H Antibodies in Pediatric Patients with Atypical Hemolytic Uremic Syndrome

  Johannes Hofer;Andreas R. Janecke;L.B. Zimmerhackl;Magdalena Riedl

  150
  Citations

• Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

  Andreas Gal;Eckart Apfelstedt-Sylla;Andreas R. Janecke;Eberhart Zrennert

  146
  Citations