Martin Zenker

Overview

Best Publications

• Germline KRAS mutations cause Noonan syndrome

  Suzanne Schubbert;Martin Zenker;Sara L . Rowe;Silke Böll

  853
  Citations

• A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

  Carolin E. Sadowski;Svjetlana Lovric;Shazia Ashraf;Werner L. Pabst

  623
  Citations

• Identifying facial phenotypes of genetic disorders using deep learning

  Yaron Gurovich;Yair Hanani;Omri Bar;Guy Nadav

  602
  Citations

• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

  Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp

  572
  Citations

• Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

  Anita Rauch;Juliane Hoyer;Sabine Guth;Christiane Zweier

  550
  Citations

• Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

  Martin Zenker;Thomas Aigner;Olaf Wendler;Tim Tralau

  539
  Citations

• Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

  Bernward G Hinkes;Bettina Mucha;Christopher N Vlangos;Rasheed Gbadegesin

  538
  Citations

• Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

  Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan

  461
  Citations

• Noonan syndrome and clinically related disorders

  Marco Tartaglia;Bruce D. Gelb;Martin Zenker

  451
  Citations

• COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

  Saskia F. Heeringa;Gil Chernin;Moumita Chaki;Weibin Zhou

  442
  Citations

• A restricted spectrum of NRAS mutations causes Noonan syndrome

  Ion C. Cirstea;Kerstin Kutsche;Radovan Dvorsky;Lothar Gremer

  354
  Citations

• STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

  Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi

  335
  Citations

• Genotype-phenotype correlations in Noonan syndrome.

  Martin Zenker;Gernot Buheitel;Ralf Rauch;Rainer Koenig

  323
  Citations

• Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

  Martin Zenker;Julia Mayerle;Markus M Lerch;Andreas Tagariello

  286
  Citations

• Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

  I. Quack;B. Vonderstrass;M. Stock;As S. Aylsworth

  276
  Citations

• Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

  Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi

  274
  Citations

• Childhood cancer predisposition syndromes : A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

  Tim Ripperger;Stefan S. Bielack;Arndt Borkhardt;Ines B. Brecht;Ines B. Brecht

  273
  Citations

• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

  D. A. Koolen;A. J. Sharp;A. J. Sharp;J. A. Hurst;H. V. Firth

  250
  Citations

• Further clinical and molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

  T Kleefstra;W A van Zelst-Stams;W M Nillesen;V Cormier-Daire

  234
  Citations

• Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

  Martin Zenker;Katarina Lehmann;Anna Leana Schulz;Helmut Barth

  234
  Citations