Characterizing the morbid genome of ciliopathies

Shaheen, R, Szymanska, K, Basu, B et al. (36 more authors) (2016) Characterizing the morbid genome of ciliopathies. Genome Biology, 17 (1). 242. ISSN 1474-760X



  • Shaheen, R
  • Szymanska, K
  • Basu, B
  • Patel, N
  • Ewida, N
  • Faqeih, E
  • Al Hashem, A
  • Derar, N
  • Alsharif, H
  • Aldahmesh, MA
  • Alazami, AM
  • Hashem, M
  • Ibrahim, N
  • Abdulwahab, FM
  • Sonbul, R
  • Alkuraya, H
  • Alnemer, M
  • Al Tala, S
  • Al-Husain, M
  • Morsy, H
  • Seidahmed, MZ
  • Meriki, N
  • Al-Owain, M
  • AlShahwan, S
  • Tabarki, B
  • Salih, MA
  • Faquih, T
  • El-Kalioby, M
  • Ueffing, M
  • Boldt, K
  • Logan, CV
  • Parry, DA
  • Al Tassan, N
  • Monies, D
  • Megarbane, A
  • Abouelhoda, M
  • Halees, A
  • Johnson, CA
  • Alkuraya, FS
Copyright, Publisher and Additional Information: © The Author(s), 2016. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Keywords: Cilia; Bardet-Biedl; Joubert; Meckel-Gruber; Nephronophthisis; Acrocallosal; Senior-Loken; Polycystic kidney; Oral-facial-digital; Founder; Variability; Modifier; Oligogenic
  • Accepted: 7 November 2016
  • Published: 28 November 2016
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 12 Jan 2017 12:07
Last Modified: 27 Jan 2020 11:34
Published Version:
Status: Published
Publisher: BioMed Central
Identification Number: