Niklas Dahl

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