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Items: 12

1.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-ud-din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
Mol Vis. 2017; 23: 482–494. Published online 2017 Jul 21.
PMCID:
PMC5524433
AbstractArticlePDF–4.1M
2.
Screening for mutation hotspots in Bardet–Biedl syndrome patients from India
Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani
Indian J Med Res. 2018 Feb; 147(2): 177–182. doi: 10.4103/ijmr.IJMR_1822_15
PMCID:
PMC5991121
AbstractArticlePDF–619K
3.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Iker Sanchez-Navarro, Luciana R. J. da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Sci Rep. 2018; 8: 5285. Published online 2018 Mar 27. doi: 10.1038/s41598-018-23520-1
PMCID:
PMC5869593
AbstractArticlePDF–2.3M
4.
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy F L Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme C M Black
J Med Genet. 2018 Feb; 55(2): 114–121. Published online 2017 Oct 26. doi: 10.1136/jmedgenet-2017-104791
PMCID:
PMC5800348
AbstractArticlePDF–360K
5.
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca, M Rashid, M Y Zahoor, W M Wissink-Lindhout, M A R Basra, M Ansar, Z Agha, K van Heeswijk, F Rasheed, M Van de Vorst, J A Veltman, C Gilissen, J Akram, T Kleefstra, M Z Assir, UK10K, D Grozeva, K Carss, F L Raymond, T D O'Connor, S A Riazuddin, S N Khan, Z M Ahmed, A P M de Brouwer, H van Bokhoven, S Riazuddin
Mol Psychiatry. 2017; 22(11): 1604–1614. Published online 2016 Jul 26. doi: 10.1038/mp.2016.109
Correction in:
Mol Psychiatry. 2020; 25(11): 3101–3102.
PMCID:
PMC5658665
AbstractArticlePDF–2.2M
6.
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis
Am J Hum Genet. 2016 Aug 4; 99(2): 318–336. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2015.04.023
PMCID:
PMC4974085
AbstractArticlePDF–2.3M
7.
VaRank: a simple and powerful tool for ranking genetic variants
Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller
PeerJ. 2015; 3: e796. Published online 2015 Mar 3. doi: 10.7717/peerj.796
PMCID:
PMC4358652
AbstractArticlePDF–741K
8.
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome
Mohammed A. Aldahmesh, Yuanyuan Li, Amal Alhashem, Shams Anazi, Hisham Alkuraya, Mais Hashem, Ali A. Awaji, Sameera Sogaty, Abdullah Alkharashi, Saeed Alzahrani, Selwa A. Al Hazzaa, Yong Xiong, Shanshan Kong, Zhaoxia Sun, Fowzan S. Alkuraya
Hum Mol Genet. 2014 Jun 15; 23(12): 3307–3315. Published online 2014 Jan 31. doi: 10.1093/hmg/ddu044
PMCID:
PMC4047285
AbstractArticlePDF–1.0M
9.
Nonsense-Mediated mRNA Decay Immunity Can Help Identify Human Polycistronic Transcripts
Guy Shahaf, Dorit Shweiki
PLoS One. 2014; 9(3): e91535. Published online 2014 Mar 12. doi: 10.1371/journal.pone.0091535
PMCID:
PMC3951408
AbstractArticlePDF–340K
10.
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt
Hum Genet. Author manuscript; available in PMC 2013 May 7.
Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 79–90. Published online 2010 Oct 30. doi: 10.1007/s00439-010-0902-8
PMCID:
PMC3646619
AbstractArticlePDF–940K
11.
Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses
John R. Hawse, James F. Hejtmancik, Quingling Huang, Nancy L. Sheets, Douglas A. Hosack, Richard A. Lempicki, Joseph Horwitz, Marc Kantorow
Mol Vis. Author manuscript; available in PMC 2010 Mar 3.
Published in final edited form as: Mol Vis. 2003 Oct 7; 9: 515–537. Published online 2003 Oct 7.
PMCID:
PMC2831407
AbstractArticlePDF–1.2M
12.
Functional annotation of the human retinal pigment epithelium transcriptome
Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen
BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164
PMCID:
PMC2679759
AbstractArticlePDF–1.3M

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