Louise Brueton

Louise Brueton 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 Louise Brueton sits on this spectrum.

Louise Brueton 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 Louise Brueton sits on this spectrum.

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