Colin A. Johnson

Colin A. Johnson 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 Colin A. Johnson sits on this spectrum.

Colin A. Johnson 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 Colin A. Johnson sits on this spectrum.

Overview

Best Publications

• Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

  Xinsheng Nan;Huck-Hui Ng;Colin A. Johnson;Carol D. Laherty

  4240
  Citations

• MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex.

  Huck-Hui Ng;Yi Zhang;Brian Hendrich;Colin A Johnson

  1169
  Citations

• PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

  Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory

  582
  Citations

• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  564
  Citations

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  431
  Citations

• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  421
  Citations

• The Cilium: Cellular Antenna and Central Processing Unit

  Jarema J. Malicki;Colin A. Johnson

  412
  Citations

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  404
  Citations

• Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

  Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  396
  Citations

• Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

  Su Kyoung Kim;Asako Shindo;Tae Joo Park;Tae Joo Park;Edwin C. Oh

  389
  Citations

• Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

  Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry

  376
  Citations

• IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

  Philip L Beales;Elizabeth Bland;Jonathan L Tobin;Chiara Bacchelli

  363
  Citations

• Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

  Victoria H. Castleman;Leila Romio;Rahul Chodhari;Robert A. Hirst

  359
  Citations

• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

  P Gissen;P Gissen;C A Johnson;N Morgan;J M Stapelbroek

  359
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  332
  Citations

• The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat

  Ursula M Smith;Mark Consugar;Louise J Tee;Brandy M McKee

  332
  Citations

• The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

  Helen R. Dawe;Ursula M. Smith;Andrew R. Cullinane;Dianne Gerrelli

  319
  Citations

• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

  Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  314
  Citations

• Mutations in TJP2 cause progressive cholestatic liver disease

  Melissa Sambrotta;Sandra Strautnieks;Efterpi Papouli;Peter Rushton

  286
  Citations