Niklas Dahl

Niklas Dahl 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 Niklas Dahl sits on this spectrum.

Niklas Dahl 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 Niklas Dahl sits on this spectrum.

Overview

Best Publications

• A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

  S S Strautnieks;L N Bull;A S Knisely;S A Kocoshis

  1140
  Citations

• The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

  Natalia Draptchinskaia;Peter Gustavsson;Björn Andersson;Monica Pettersson

  969
  Citations

• A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

  Jocelyn Laporte;Ling Jia Hu;Christine Kretz;Jean-Louis Mandel

  708
  Citations

• HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

  Christoph Klein;Magda Grudzien;Giridharan Appaswamy;Manuela Germeshausen

  574
  Citations

• Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

  Adrianna Vlachos;Sarah Ball;Niklas Dahl;Blanche P. Alter

  502
  Citations

• Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

  Mireille Cossée;A Dürr;M. Schmitt;N Dahl

  484
  Citations

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

  N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  444
  Citations

• A Multicenter Study on Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB12.3: The First 2,253 Cases

  F Rousseau;D Heitz;J Tarleton;J MacPherson

  370
  Citations

• 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.

  A. Maugeri;M.A. van Driel;T.J.R. van de Pol;B.J. Klevering

  346
  Citations

• A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).

  Maria Lagerström;Niklas Dahl;Yutaka Nakahori;Yasuo Nakagome

  317
  Citations

• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

  J.T. Dendunnen;T. Kraayenbrink;T. Kraayenbrink;M. van Schooneveld;M. van Schooneveld;E. van de Vosse

  283
  Citations

• Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

  Thiébaut-Noël Willig;Natalia Draptchinskaia;Irma Dianzani;Sarah Ball

  275
  Citations

• The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.

  Henrik Arnell;Kelm Hjalmas;Martin Jagervall;Göran Läckgren

  251
  Citations

• The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

  Ilenia Boria;Emanuela Garelli;Hanna T. Gazda;Hanna T. Gazda;Anna Aspesi

  250
  Citations

• Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.

  Tobias Carling;Eva Szabo;Mei Bai;Peter Ridefelt

  248
  Citations

• Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

  Richard J. Gibbons;Satvinder Bachoo;David J. Picketts;Salim Aftimos

  229
  Citations

• Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

  Sara Hakansson;O Johannsson;Ulla Johansson;G Sellberg

  223
  Citations

• Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

  Maire-Louise Bondeson;Niklas Dahl;Helena Malmgren;Wim J. Kleijer

  203
  Citations

• Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

  Birgitta Bergendal;Joakim Klar;Christina Stecksén-Blicks;Johanna Norderyd

  197
  Citations

• Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4

  Y. J. M. De Kok;E. R. Vossenaar;C. W. R. J. Cremers;N. Dahl

  193
  Citations