Manfred Stuhrmann

Overview

Best Publications

• Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

  Phil H. Lee;Verneri Anttila;Hyejung Won;Yen-Chen A. Feng

  1346
  Citations

• Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

  C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  822
  Citations

• Recommendations for the classification of diseases as CFTR-related disorders

  Cristina Bombieri;M Claustres;K De Boeck;N Derichs

  459
  Citations

• Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

  Dongmei Yu;Jae Hoon Sul;Fotis Tsetsos;Muhammad S Nawaz

  415
  Citations

• Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

  Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  315
  Citations

• Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

  Thilo Dörk;Bernd Dworniczak;Christa Aulehla-Scholz;Dagmar Wieczorek

  306
  Citations

• Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

  Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  289
  Citations

• Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

  Natalia Sandoval;Matthias Platzer;André Rosenthal;Thilo Dörk

  265
  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

• Spectrum of ATM Gene Mutations in a Hospital-based Series of Unselected Breast Cancer Patients

  Thilo Dörk;Regina Bendix;Michael Bremer;Dirk Rades

  210
  Citations

• Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

  Alden Y. Huang;Alden Y. Huang;Dongmei Yu;Dongmei Yu;Lea K. Davis;Jae Hoon Sul;Jae Hoon Sul

  179
  Citations

• Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

  T. Dörk;M. Macek;F. Mekus;B. Tümmler

  165
  Citations

• Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.

  J Ockenga;M Stuhrmann;M Ballmann;N Teich

  145
  Citations

• A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene.

  D Gadzicki;K Müller-Vahl;M Stuhrmann

  142
  Citations

• Frequency and Phenotypic Variability of the GAG Deletion of the DYT1 Gene in an Unselected Group of Patients With Dystonia

  Kathrin Grundmann;Ulrike Laubis-Herrmann;Ingrid Bauer;Dirk Dressler

  133
  Citations

• CFTR gene mutations and male infertility

  M Stuhrmann;T Dörk

  129
  Citations

• LDLR Database (second edition): New additions to the database and the software, and results of the first molecular analysis

  Mathilde Varret;Jean-Pierre Rabés;Rochelle Thiart;Maritha J. Kotze

  121
  Citations

• Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

  Anthonie J. van Essen;Stephen Abbs;Montserrat Baiget;Egbert Bakker

  119
  Citations

• Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

  Abul Kalam Azad;Robert Rauh;François Vermeulen;Martine Jaspers

  113
  Citations

• Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

  Lee Ph;Anttila;Won H

  65
  Citations