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Items: 1 to 20 of 21

1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Hum Mol Genet. 2023 Feb 15; 32(4): 595–607. Published online 2022 Sep 9. doi: 10.1093/hmg/ddac227
PMCID:
PMC9896476
ArticlePDF–1.8M
2.
Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima
CEN Case Rep. 2020 Aug; 9(3): 260–265. Published online 2020 Apr 6. doi: 10.1007/s13730-020-00472-y
PMCID:
PMC7320120
ArticlePDF–1.4M
3.
Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
Lotte Kleinendorst, Sanne I. M. Alsters, Ozair Abawi, Quinten Waisfisz, Elles M. J. Boon, Erica L. T. van den Akker, Mieke M. van Haelst
Eur J Hum Genet. 2020 Jul; 28(7): 943–946. Published online 2020 Mar 6. doi: 10.1038/s41431-020-0594-z
PMCID:
PMC7316806
ArticlePDF–324K
4.
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halperin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia, Ohad S. Birk
Eur J Hum Genet. 2019 Jun; 27(6): 928–940. Published online 2019 Feb 5. doi: 10.1038/s41431-019-0347-z
PMCID:
PMC6777442
ArticlePDF–1.8M
5.
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Ital J Pediatr. 2019; 45: 72. Published online 2019 Jun 13. doi: 10.1186/s13052-019-0659-1
PMCID:
PMC6567512
ArticlePDF–729K
6.
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Jean Muller
Front Genet. 2019; 10: 21. Published online 2019 Jan 30. doi: 10.3389/fgene.2019.00021
PMCID:
PMC6363664
ArticlePDF–1.4M
7.
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
Katie Weihbrecht, Wesley A. Goar, Thomas Pak, Janelle E. Garrison, Adam P. DeLuca, Edwin M. Stone, Todd E. Scheetz, Val C. Sheffield
Med Res Arch. Author manuscript; available in PMC 2018 Feb 15.
Published in final edited form as: Med Res Arch. 2017 Sep; 5(9): 10.18103/mra.v5i9.1526. Published online 2017 Sep 18.
PMCID:
PMC5814251
ArticlePDF–299K
8.
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease
A. Panny, I. Glurich, R.M. Haws, A. Acharya
J Dent Res. 2017 Nov; 96(12): 1361–1369. Published online 2017 Jun 29. doi: 10.1177/0022034517716913
PMCID:
PMC5652854
ArticlePDF–432K
9.
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore, Adam P. DeLuca, Joseph C. Giacalone, Luan M. Streb, Terry A. Braun, Robert F. Mullins, Todd E. Scheetz, Val C. Sheffield, Budd A. Tucker
Ophthalmology. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: Ophthalmology. 2017 Sep; 124(9): 1314–1331. Published online 2017 May 27. doi: 10.1016/j.ophtha.2017.04.008
PMCID:
PMC5565704
ArticlePDF–735K
10.
Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L. Beales
J Am Soc Nephrol. 2017 Mar; 28(3): 963–970. Published online 2016 Sep 22. doi: 10.1681/ASN.2015091029
PMCID:
PMC5328148
Article
11.
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
ArticlePDF–2.3M
12.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A. Radu Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, Patricia Bignell, Edward Blair, Veronica J Buckle, Katherine Bull, Ondrej Cais, Holger Cario, Helen Chapel, Richard R Copley, Richard Cornall, Jude Craft, Karin Dahan, Emma E Davenport, Calliope Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V Gruszczyk, Robert Hastings, Edouard Hatton, Doug Higgs, Adrian Hill, Chris Holmes, Malcolm Howard, Linda Hughes, Peter Humburg, David Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C Knight, Jonathan Krohn, Sarah Lamble, Craig Langman, Lorne Lonie, Joshua Luck, Davis McCarthy, Simon J McGowan, Mary Frances McMullin, Kerry A Miller, Lisa Murray, Andrea H Németh, M Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Bang Oturai, Alistair Pagnamenta, Smita Y Patel, Melanie Percy, Nayia Petousi, Paolo Piazza, Sian E Piret, Guadalupe Polanco-Echeverry, Niko Popitsch, Fiona Powrie, Chris Pugh, Lynn Quek, Peter A Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A van Schouwenburg, Anna Schuh, Earl Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V Thakker, Ian Tomlinson, Amy Trebes, Stephen RF Twigg, Holm H Uhlig, Paresh Vyas, Tim Vyse, Steven A Wall, Hugh Watkins, Michael P Whyte, Lorna Witty, Ben Wright, Chris Yau, David Buck, Sean Humphray, Peter J Ratcliffe, John I Bell, Andrew OM Wilkie, David Bentley, Peter Donnelly, Gilean McVean
Nat Genet. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Nat Genet. 2015 Jul; 47(7): 717–726. Published online 2015 May 18. doi: 10.1038/ng.3304
PMCID:
PMC4601524
ArticlePDF–1.3M
13.
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
ArticlePDF–1.0M
14.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus
J Med Genet. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: J Med Genet. 2014 Feb; 51(2): 132–136. Published online 2013 Sep 11. doi: 10.1136/jmedgenet-2013-101785
PMCID:
PMC3966300
ArticlePDF–1.1M
15.
Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing
Dong-Jun Xing, Hong-Xing Zhang, Na Huang, Kun-Chao Wu, Xiu-Feng Huang, Fang Huang, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin
PLoS One. 2014; 9(3): e90599. Published online 2014 Mar 7. doi: 10.1371/journal.pone.0090599
PMCID:
PMC3946549
ArticlePDF–2.6M
16.
Bardet–Biedl syndrome
Elizabeth Forsythe, Philip L Beales
Eur J Hum Genet. 2013 Jan; 21(1): 8–13. Published online 2012 Jun 20. doi: 10.1038/ejhg.2012.115
PMCID:
PMC3522196
ArticlePDF–760K
17.
Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attie-Bittach, Nicholas Katsanis, John B. Wallingford
Science. Author manuscript; available in PMC 2012 Nov 29.
Published in final edited form as: Science. 2010 Sep 10; 329(5997): 1337–1340. Published online 2010 Jul 29. doi: 10.1126/science.1191184
PMCID:
PMC3509789
ArticlePDF–2.9M
18.
In search of triallelism in Bardet–Biedl syndrome
Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair Al-Hassnan, Basim Alkuraya, Jawahir Y Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Al-Hashem, Sami Wali, Zuhair Rahbeeni, Moeen Alsayed, Arif O Khan, Lihadh Al-Gazali, Peter EM Taschner, Selwa Al-Hazzaa, Fowzan S Alkuraya
Eur J Hum Genet. 2012 Apr; 20(4): 420–427. Published online 2012 Feb 22. doi: 10.1038/ejhg.2011.205
PMCID:
PMC3306854
ArticlePDF–477K
19.
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos, Leslie G Biesecker
BMC Med Genet. 2011; 12: 101. Published online 2011 Jul 27. doi: 10.1186/1471-2350-12-101
PMCID:
PMC3199749
ArticlePDF–245K
20.
Loss of Bardet–Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting
Abigail L. D. Tadenev, Heather M. Kulaga, Helen L. May-Simera, Matthew W. Kelley, Nicholas Katsanis, Randall R. Reed
Proc Natl Acad Sci U S A. 2011 Jun 21; 108(25): 10320–10325. Published online 2011 Jun 6. doi: 10.1073/pnas.1016531108
PMCID:
PMC3121838
ArticlePDF–1.3M

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