Hannah M. Mitchison

Overview

Best Publications

• Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

  Heike Olbrich;Karsten Häffner;Andreas Kispert;Alexander Völkel

  633
  Citations

• The UK10K project identifies rare variants in health and disease

  Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  453
  Citations

• Primary ciliary dyskinesia: current state of the art

  Andrew Bush;Rahul Chodhari;Nicola Collins;Fiona Copeland

  439
  Citations

• Motile and non-motile cilia in human pathology: from function to phenotypes.

  Hannah M Mitchison;Enza Maria Valente

  406
  Citations

• Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

  Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

  403
  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

• Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

  Lucia Bartoloni;Jean-Louis Blouin;Yanzhen Pan;Corinne Gehrig

  396
  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

• Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia Without Randomization of Left-Right Body Asymmetry

  Heike Olbrich;Miriam Schmidts;Claudius Werner;Alexandros Onoufriadis

  334
  Citations

• DYX1C1 is required for axonemal dynein assembly and ciliary motility

  Aarti Tarkar;Niki T. Loges;Christopher E. Slagle;Richard Francis

  308
  Citations

• Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

  Hannah M Mitchison;Miriam Schmidts;Niki T Loges;Judy Freshour

  305
  Citations

• DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

  Niki Tomas Loges;Heike Olbrich;Lale Fenske;Huda Mussaffi

  301
  Citations

• Diagnosis and management of primary ciliary dyskinesia

  Jane S Lucas;Jane S Lucas;Andrea Burgess;Hannah M Mitchison;Eduardo Moya

  300
  Citations

• CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

  Jennifer R Panizzi;Anita Becker-Heck;Victoria H Castleman;Dalal A Al-Mutairi;Dalal A Al-Mutairi

  280
  Citations

• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

  Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  276
  Citations

• MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

  Mieke Boon;Julia Wallmeier;Lina Ma;Niki Tomas Loges

  254
  Citations

• Spectrum of Mutations in the Batten Disease Gene, CLN3

  Patricia B. Munroe;Hannah M. Mitchison;Angela M. O'Rawe;John W. Anderson

  243
  Citations

• Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

  Hannah M. Mitchison;David J. Bernard;Nicholas D.E. Greene;Jonathan D. Cooper

  242
  Citations

• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

  Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  240
  Citations

• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Boldt K;van Reeuwijk J;Lu Q;Koutroumpas K

  231
  Citations