Louise Brueton

Overview

Best Publications

• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

  A K Ryan;J A Goodship;D I Wilson;N Philip

  1310
  Citations

• Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

  Gillian I. Rice;Paul R. Kasher;Gabriella M A Forte;Niamh M. Mannion

  986
  Citations

• Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

  Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette

  818
  Citations

• Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

  E R Maher;L A Brueton;S C Bowdin;A Luharia

  732
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  499
  Citations

• Assisted reproductive therapies and imprinting disorders—a preliminary British survey

  A.G. Sutcliffe;C.J. Peters;S. Bowdin;K. Temple

  342
  Citations

• Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

  Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  299
  Citations

• Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

  Derek Lim;Sarah C. Bowdin;Louise Tee;Gail A. Kirby

  282
  Citations

• Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

  I. Quack;B. Vonderstrass;M. Stock;As S. Aylsworth

  276
  Citations

• Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

  Frances R. Goodman;Chiara Bacchelli;Angela F. Brady;Louise A. Brueton

  262
  Citations

• Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

  V. Laugel;C. Dalloz;M. Durand;F. Sauvanaud

  245
  Citations

• Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

  Michael E. Talkowski;Sureni V. Mullegama;Jill A. Rosenfeld;Bregje W M Van Bon

  239
  Citations

• Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

  Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  237
  Citations

• A survey of assisted reproductive technology births and imprinting disorders

  Sarah Bowdin;Cathy Allen;Gail Kirby;Louise Brueton

  237
  Citations

• Further clinical and molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

  T Kleefstra;W A van Zelst-Stams;W M Nillesen;V Cormier-Daire

  234
  Citations

• Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

  Nathalie Van der Aa;Liesbeth Rooms;Geert Vandeweyer;Jenneke van den Ende

  227
  Citations

• Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

  Pekka Tapani Nieminen;Neil V. Morgan;Aimee L. Fenwick;Satu Parmanen

  207
  Citations

• Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

  A. Vincent;C. Newland;D. Beeson;S. Riemersma

  205
  Citations

• Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

  Neil V. Morgan;Louise A. Brueton;Phillip Cox;Marie T. Greally

  204
  Citations

• Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

  Fatemeh Geranmayeh;Emma Clement;Lucy H. Feng;Caroline Sewry

  204
  Citations