Manfred Stuhrmann

Manfred Stuhrmann 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 Manfred Stuhrmann sits on this spectrum.

Manfred Stuhrmann 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 Manfred Stuhrmann sits on this spectrum.

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