Clare V. Logan

Overview

Best Publications

• 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

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

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

  404
  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

• 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

• 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

• Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

  David A. Parry;Clare V. Logan;Bruce E. Hayward;Michael Shires

  254
  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

• TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

  Lijia Huang;Katarzyna Szymanska;Victor L. Jensen;Andreas R. Janecke

  228
  Citations

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Ji Eun Lee;Jennifer L Silhavy;Maha S Zaki;Jana Schroth

  205
  Citations

• Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

  Robert K Koenekoop;Hui Wang;Jacek Majewski;Xia Wang

  203
  Citations

• Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

  Matthew Adams;Ursula M Smith;Clare V Logan;Colin A Johnson

  194
  Citations

• De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

  Ghayda M Mirzaa;Ghayda M Mirzaa;David A Parry;Andrew Evan Fry;Kristin A Giamanco

  163
  Citations

• Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

  Helen R. Dawe;Matthew Adams;Gabrielle Wheway;Katarzyna Szymanska

  160
  Citations

• Characterizing the morbid genome of ciliopathies

  Ranad Shaheen;Katarzyna Szymanska;Basudha Basu;Nisha Patel

  146
  Citations

• Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

  Patricia Heyn;Clare V. Logan;Adeline Fluteau;Rachel C. Challis

  140
  Citations

• Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

  David A. Parry;James A. Poulter;Clare V. Logan;Steven J. Brookes

  125
  Citations

• A meckelin–filamin A interaction mediates ciliogenesis

  Matthew Adams;Roslyn J. Simms;Zakia Abdelhamed;Helen R. Dawe

  118
  Citations

• Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

  Graciana Jaureguiberry;Muriel De La Dure-Molla;David Parry;Mickael Quentric

  111
  Citations

• Mutations in MEGF10 , a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

  Clare V Logan;Barbara Lucke;Caroline Pottinger;Zakia A Abdelhamed;Zakia A Abdelhamed

  111
  Citations