Anna Wedell

Research.com Recognitions

• 2020 - Member of Academia Europaea

Overview

Best Publications

• Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.

  A Wedell;A Thilén;E M Ritzén;B Stengler

  515
  Citations

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

  Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  435
  Citations

• Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.

  Anna Nordenström;Anna Servin;Gunilla Bohlin;Agne Larsson

  329
  Citations

• Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

  M. Gidh-Jain;J. Takeda;L. Z. Xu;A. J. Lange

  283
  Citations

• Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone

  Tatja Hirvikoski;Anna Nordenstrom;Torun Lindholm;Frank Lindblad

  240
  Citations

• Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations

  Anna Wedell;Holger Luthman

  225
  Citations

• An international classification of inherited metabolic disorders (ICIMD).

  Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  219
  Citations

• Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

  A Wedell;E M Ritzén;B Haglund-Stengler;H Luthman

  213
  Citations

• Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

  Henrik Stranneheim;Henrik Stranneheim;Henrik Stranneheim;Kristina Lagerstedt-Robinson;Kristina Lagerstedt-Robinson;Måns Magnusson;Måns Magnusson;Malin Kvarnung;Malin Kvarnung

  189
  Citations

• Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

  Henrik Falhammar;Helena Filipsson Nyström;Urban Ekström;Seth Granberg

  189
  Citations

• A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

  Patrick G. Buckley;Kiran Kumar Mantripragada;Magdalena Benetkiewicz;Isabel Tapia-Páez

  187
  Citations

• Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

  Tommy Stödberg;Amy McTague;Arnaud J. Ruiz;Hiromi Hirata

  180
  Citations

• AGC1 deficiency associated with global cerebral hypomyelination.

  Rolf Wibom;Francesco M. Lasorsa;Virpi Töhönen;Michela Barbaro

  171
  Citations

• Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

  Anna Nordenström;Astrid Thilén;Lars Hagenfeldt;Agne Larsson

  154
  Citations

• Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

  Magnus K. Bjursell;Magnus K. Bjursell;Henk J. Blom;Jordi Asin Cayuela;Martin L. Engvall;Martin L. Engvall

  138
  Citations

• From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

  Anna Lindstrand;Anna Lindstrand;Jesper Eisfeldt;Maria Pettersson;Maria Pettersson;Claudia M. B. Carvalho

  128
  Citations

• Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

  Michela Barbaro;Mikael Oscarson;Jacqueline Schoumans;Johan Staaf

  126
  Citations

• Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

  Rocio Acuna-Hidalgo;Denny Schanze;Ariana Kariminejad;Ann Nordgren;Ann Nordgren

  124
  Citations

• Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

  Tiina Robins;Jonas Carlsson;Maria Sunnerhagen;Anna Wedell

  115
  Citations

• Mutational Spectrum of the Steroid 21-Hydroxylase Gene In Sweden: Implications for Genetic Diagnosis and Association With Disease Manifestation

  Anna Wedell;Astrid Thilén;E. Martin Ritzén;Barhro Stengler

  2
  Citations