a public good project by the
Synthesis
Company
of California

© 2026

Niklas Dahl | doi.page

0 works0 citations0 h-index

Niklas Dahl

Uppsala University(SE)University of Southern Denmark(DK)Science for Life Laboratory(SE)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Cancer-related gene regulation, Epigenetics and DNA Methylation

Most-Cited Works

→ A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis(1998)997 cited
→ The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia(1999)784 cited
→ A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast(1996)624 cited
→ HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)(2006)503 cited
→ Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference(2008)466 cited
→ Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes(1999)382 cited

→ The origin of the major cystic fibrosis mutation (ΔF508) in European populations(1994)

343 cited

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.(1994)

→ A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)(1991)286 cited

→ The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease(1999)260 cited