Andreas R. Janecke

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