John Tolmie

Overview

Best Publications

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

  Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner

  783
  Citations

• Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

  Sandra Hanks;Kim Coleman;Sarah Reid;Alberto Plaja

  700
  Citations

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

• PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

  Debbie J. Marsh;Debbie J. Marsh;Jennifer B. Kum;Jennifer B. Kum;Kathryn L. Lunetta;Michael J. Bennett

  667
  Citations

• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

  Gillian I Rice;Yoandris del Toro Duany;Yoandris del Toro Duany;Emma M Jenkinson;Gabriella M A Forte

  635
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

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

  499
  Citations

• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

  Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  456
  Citations

• A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

  S. M. Zuberi;L. H. Eunson;A. Spauschus;R. De Silva

  423
  Citations

• Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

  Soumeya Bekri;Gyula Kispal;Gyula Kispal;Gyula Kispal;Heike Lange;Edward Fitzsimons

  313
  Citations

• Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

  H.A. Phillips;I.E. Scheffer;K.M. Crossland;K.P. Bhatia

  297
  Citations

• Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Beverley H Anderson;Paul R Kasher;Josephine Mayer;Marcin Szynkiewicz

  289
  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

• CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

  H L Archer;J Evans;S Edwards;J Colley

  236
  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

• How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

  Siddharth Banka;Ratna Veeramachaneni;William Reardon;Emma Howard

  203
  Citations

• Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

  Andrea H. Németh;Andrea H. Németh;Andrea H. Németh;Alexandra C. Kwasniewska;Alexandra C. Kwasniewska;Stefano Lise;Ricardo Parolin Schnekenberg;Ricardo Parolin Schnekenberg

  194
  Citations

• Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

  Morad Ansari;Gemma Poke;Quentin Ferry;Kathleen Williamson

  180
  Citations

• Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

  Asif Ali;Paul T. Christie;Irina V. Grigorieva;Brian Harding

  175
  Citations

• Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

  Carine Le Goff;Clémentine Mahaut;Avinash Abhyankar;Wilfried Le Goff

  158
  Citations