Ciliopathy

Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
Brais Bea-Mascato, Diana Valverde

Journal of Medical Genetics Jan 2024, 61 (1) 18-26; DOI: 10.1136/jmg-2023-109175
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
Zuzanna Bukowy-Bieryllo, Alicja Rabiasz, Maciej Dabrowski, Andrzej Pogorzelski, Alina Wojda, Hanna Dmenska, Katarzyna Grzela, Jakub Sroczynski, Michal Witt, Ewa Zietkiewicz

Journal of Medical Genetics Nov 2019, 56 (11) 769-777; DOI: 10.1136/jmedgenet-2018-105918
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, NISC Comparative Sequencing Program, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics Aug 2017, 54 (8) 521-529; DOI: 10.1136/jmedgenet-2016-104425
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales

Journal of Medical Genetics Mar 2015, 52 (3) 147-156; DOI: 10.1136/jmedgenet-2014-102691
Mutations in TMEM231 cause Meckel–Gruber syndrome
Ranad Shaheen, Shinu Ansari, Elham AL Mardawi, Muneera J Alshammari, Fowzan S Alkuraya

Journal of Medical Genetics Mar 2013, 50 (3) 160-162; DOI: 10.1136/jmedgenet-2012-101431
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, University of Washington Center for Mendelian Genomics, P Chance, M A Parisi, I A Glass, J Shendure, D Doherty

Journal of Medical Genetics Aug 2015, 52 (8) 514-522; DOI: 10.1136/jmedgenet-2015-103087
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, NISC Comparative Sequencing Program, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics Dec 2015, 52 (12) 830-839; DOI: 10.1136/jmedgenet-2015-103316

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Ciliopathy