Ann Nordgren

Overview

Best Publications

• Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

  Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  591
  Citations

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

  Céline Helsmoortel;Anneke T Vulto-van Silfhout;Bradley P Coe;Geert Vandeweyer

  360
  Citations

• Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

  Tianyun Wang;Kendra Hoekzema;Davide Vecchio;Huidan Wu

  199
  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

• The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia

  Kajsa Paulsson;Henrik Lilljebjörn;Andrea Biloglav;Linda Olsson

  184
  Citations

• Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

  Madeleine R. Geisheker;Gabriel Heymann;Tianyun Wang;Bradley P. Coe

  182
  Citations

• Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping

  Soili Kytölä;Jaana Rummukainen;Ann Nordgren;Ritva Karhu

  159
  Citations

• A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

  Malin Kvarnung;Malin Kvarnung;Daniel Nilsson;Anna Lindstrand;Anna Lindstrand;G Christoph Korenke

  139
  Citations

• Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

  Anke Van Dijck;Anneke T Vulto-van Silfhout;Elisa Cappuyns;Ilse M van der Werf

  138
  Citations

• Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

  Emma Tham;Emma Tham;Anna Lindstrand;Anna Lindstrand;Avni Santani;Helena Malmgren;Helena Malmgren

  130
  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

• 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

• Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

  Patricia Fergelot;Martine Van Belzen;Julien Van Gils;Alexandra Afenjar

  123
  Citations

• MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

  P. Makrythanasis;B. W. van Bon;M. Steehouwer;B. Rodriguez-Santiago

  118
  Citations

• Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

  I. Kapferer-Seebacher;M. Pepin;R. Werner;T. J. Aitman

  116
  Citations

• Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival

  Erik Forestier;Mats Heyman;Mette K Andersen;Kirsi Autio

  111
  Citations

• Limitations of Chromosome Classification by Multicolor Karyotyping

  Charles Lee;David Gisselsson;Charlotte Jin;Ann Nordgren

  111
  Citations

• De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

  Margot R.F. Reijnders;Vasilios Zachariadis;Brooke Latour;Lachlan Jolly

  102
  Citations

• Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

  Tianyun Wang;Kendra Hoekzema;Davide Vecchio;Huidan Wu

  0
  Citations