John Tolmie

John Tolmie publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where John Tolmie sits on this spectrum.

John Tolmie D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where John Tolmie sits on this spectrum.

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