Manfred Stuhrmann
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Neonatal Respiratory Health Research, Tracheal and airway disorders, Hemoglobinopathies and Related Disorders, Obsessive-Compulsive Spectrum Disorders
Most-Cited Works
- → Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice(2008)590 cited
- → Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies(2019)425 cited
- → Recommendations for the classification of diseases as CFTR-related disorders(2011)417 cited
- → Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign(2004)250 cited
- → Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations(2008)241 cited
- → Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy(2003)210 cited
- → Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome(2017)176 cited
- Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.(2001)
- → Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.(1995)112 cited
- → Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis(2000)108 cited