Hans Christian Hennies

Overview

Best Publications

• Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

  H Witt;W Luck;H C Hennies;M Classen

  1200
  Citations

• Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

  Vinzenz Oji;Gianluca Tadini;Masashi Akiyama;Claudine Blanchet Bardon

  845
  Citations

• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

  John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg

  764
  Citations

• Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

  Udo zur Stadt;Susanne Schmidt;Brigitte Kasper;Karin Beutel

  657
  Citations

• Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

  Bernward Hinkes;Roger C. Wiggins;Rasheed Gbadegesin;Christopher N. Vlangos

  647
  Citations

• Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

  Udo zur Stadt;Jan Rohr;Wenke Seifert;Wenke Seifert;Florian Koch

  483
  Citations

• Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III

  Sven Cichon;Ludovic Martin;Hans Christian Hennies;Felicitas Müller

  396
  Citations

• Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

  Udo Zur Stadt;Karin Beutel;Susanne Kolberg;Reinhard Schneppenheim

  342
  Citations

• Keratin 9 Gene Mutations in Epidermolytic Palmoplantar Keratoderma (EPPK)

  André Reis;Hans Christian Hennies;Lutz Langbein;Martin Digweed

  334
  Citations

• Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

  Axel M. Hillmer;Sandra Hanneken;Sibylle Ritzmann;Tim Becker

  275
  Citations

• A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

  Edgar Otto;Julia Hoefele;Rainer Ruf;Adelheid M. Mueller

  254
  Citations

• Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

  Vinzenz Oji;Katja-Martina Eckl;Karin Aufenvenne;Marc Nätebus

  247
  Citations

• RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

  Diana C. Blaydon;Sarah L. Etheridge;Janet M. Risk;Hans-Christian Hennies

  219
  Citations

• In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells

  Azra Fatima;Guoxing Xu;Kaifeng Shao;Symeon Papadopoulos

  217
  Citations

• A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

  Muhammad Sajid Hussain;Shahid Mahmood Baig;Sascha Neumann;Gudrun Nürnberg

  212
  Citations

• Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

  Sandra Ammann;Sandra Ammann;Ansgar Schulz;Ingeborg Krägeloh-Mann;Nele M. G. Dieckmann

  203
  Citations

• Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

  Katja-Martina Eckl;Katja-Martina Eckl;Rotem Tidhar;Holger Thiele;Vinzenz Oji

  196
  Citations

• Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15

  Sabine Sasse-Klaassen;Susanne Probst;Brenda Gerull;Erwin Oechslin

  195
  Citations

• Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

  Hans Christian Hennies;Uwe Kornak;Uwe Kornak;Haikuo Zhang;Haikuo Zhang;Johannes Egerer

  178
  Citations

• Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia

  H P Stevens;H P Stevens;S E Choon;H C Hennies;D P Kelsell

  19
  Citations