PMC Links for OMIM (Select 209900) - PMC

Select item 82729151.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A. Lewis, Michael E. Talkowski, Hélène Dollfus, Manolis Kellis, Erica E. Davis, Shamil R. Sunyaev, Nicholas Katsanis

Nat Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Nat Genet. 2020 Nov; 52(11): 1145–1150. Published online 2020 Oct 12. doi: 10.1038/s41588-020-0707-1

PMCID:: PMC8272915

Abstract Article PDF–1.8M

Select item 49740852.

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

Abstract Article PDF–2.3M

Select item 39663003.

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

Abstract Article PDF–1.1M

Select item 39320254.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma Lopez, Jacques E Zaneveld, Sorath Siddiqui, Stephanie Bowles, Ayesha Khan, Jason Salvo, Samuel G Jacobson, Alessandro Iannaccone, Feng Wang, David Birch, John R Heckenlively, Gerald A Fishman, Elias I Traboulsi, Yumei Li, Dianna Wheaton, Robert K Koenekoop, Rui Chen

J Med Genet. Author manuscript; available in PMC 2014 Feb 22.

Published in final edited form as: J Med Genet. 2013 Oct; 50(10): 674–688. Published online 2013 Jul 11. doi: 10.1136/jmedgenet-2013-101558

PMCID:: PMC3932025

Abstract Article PDF–2.2M

Select item 36748365.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

Nat Genet. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 601–606. Published online 2011 May 8. doi: 10.1038/ng.826

PMCID:: PMC3674836

Abstract Article PDF–1.2M

Select item 36466196.

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

Abstract Article PDF–940K

Select item 36389427.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, C. Stoetzel, M. C. Vincent, C. C. Leitch, V. Laurier, J. M. Danse, S. Hellé, V. Marion, V. Bennouna-Greene, S. Vicaire, A. Megarbane, J. Kaplan, V. Drouin-Garraud, M. Hamdani, S. Sigaudy, C. Francannet, J. Roume, P. Bitoun, A. Goldenberg, N. Philip, S. Odent, J. Green, M. Cossée, E. E. Davis, N. Katsanis, D. Bonneau, A. Verloes, O. Poch, J. L. Mandel, H. Dollfus

Hum Genet. Author manuscript; available in PMC 2013 Apr 29.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 583–593. Published online 2010 Feb 23. doi: 10.1007/s00439-010-0804-9

PMCID:: PMC3638942

Abstract Article PDF–1.0M

Select item 33068548.

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

Abstract Article PDF–477K

Select item 32958279.

Clinical and Genetic Epidemiology of Bardet–Biedl Syndrome in Newfoundland: A 22-Year Prospective, Population-Based, Cohort Study

Susan J. Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C. Cramer, John C.S. Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson, Patrick S. Parfrey

Am J Med Genet A. Author manuscript; available in PMC 2012 Mar 6.

Published in final edited form as: Am J Med Genet A. 2005 Feb 1; 132A(4): 352–360. doi: 10.1002/ajmg.a.30406

PMCID:: PMC3295827

Abstract Article PDF–654K

Select item 278347610.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos A. Murga-Zamalloa, Alejandro Estrada, Irma Lopez, Anneke I. den Hollander, Marijke N. Zonneveld, Mohammad I. Othman, Naushin Waseem, Christina F. Chakarova, Cecilia Maubaret, Anna Diaz-Font, Ian MacDonald, Donna M. Muzny, David A. Wheeler, Margaret Morgan, Lora R. Lewis, Clare V. Logan, Perciliz L. Tan, Michael A. Beer, Chris F. Inglehearn, Richard A. Lewis, Samuel G. Jacobson, Carsten Bergmann, Philip L. Beales, Tania Attié-Bitach, Colin A. Johnson, Edgar A. Otto, Shomi S. Bhattacharya, Friedhelm Hildebrandt, Richard A. Gibbs, Robert K. Koenekoop, Anand Swaroop, Nicholas Katsanis

Nat Genet. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 739–745. Published online 2009 May 10. doi: 10.1038/ng.366

PMCID:: PMC2783476

Abstract Article PDF–559K

Select item 226519311.

Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

Alok S. Shah, Sara L. Farmen, Thomas O. Moninger, Thomas R. Businga, Michael P. Andrews, Kevin Bugge, Charles C. Searby, Darryl Nishimura, Kim A. Brogden, Joel N. Kline, Val C. Sheffield, Michael J. Welsh

Proc Natl Acad Sci U S A. 2008 Mar 4; 105(9): 3380–3385. Published online 2008 Feb 25. doi: 10.1073/pnas.0712327105

PMCID:: PMC2265193

Abstract Article PDF–1.2M

Select item 214830512.

A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

Roger E. Davis, Ruth E. Swiderski, Kamal Rahmouni, Darryl Y. Nishimura, Robert F. Mullins, Khristofor Agassandian, Alisdair R. Philp, Charles C. Searby, Michael P. Andrews, Stewart Thompson, Christopher J. Berry, Daniel R. Thedens, Baoli Yang, Robert M. Weiss, Martin D. Cassell, Edwin M. Stone, Val C. Sheffield

Proc Natl Acad Sci U S A. 2007 Dec 4; 104(49): 19422–19427. Published online 2007 Nov 21. doi: 10.1073/pnas.0708571104

PMCID:: PMC2148305

Abstract Article PDF–1.1M

Select item 207728913.

Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function

Perciliz L. Tan, Travis Barr, Peter N. Inglis, Norimasa Mitsuma, Susan M. Huang, Miguel A. Garcia-Gonzalez, Brian A. Bradley, Stephanie Coforio, Phillip J. Albrecht, Terry Watnick, Gregory G. Germino, Philip L. Beales, Michael J. Caterina, Michel R. Leroux, Frank L. Rice, Nicholas Katsanis

Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17524–17529. Published online 2007 Oct 24. doi: 10.1073/pnas.0706618104

PMCID:: PMC2077289

Abstract Article PDF–1.6M

Select item 176297314.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. David, P. Bitoun, D. Lacombe, J. Lambert, A. Nivelon, J. Vigneron, A. Verloes

J Med Genet. 1999 Aug; 36(8): 599–603.

PMCID:: PMC1762973

Summary PDF–72K

Select item 173437815.

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

P Beales, N Elcioglu, A Woolf, D Parker, F Flinter

J Med Genet. 1999 Jun; 36(6): 437–446.

PMCID:: PMC1734378

Summary PDF–182K

Select item 128837916.

A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM

Terry-Lynn Young, Michael O. Woods, Patrick S. Parfrey, Jane S. Green, Donna Hefferton, William S. Davidson

Am J Hum Genet. 1999 Dec; 65(6): 1680–1687. Published online 1999 Nov 19. doi: 10.1086/302686

PMCID:: PMC1288379

Abstract Article PDF–290K

Select item 128837817.

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

Nicholas Katsanis, Richard A. Lewis, David W. Stockton, Phuong M. T. Mai, Lisa Baird, Philip L. Beales, Mark Leppert, James R. Lupski

Am J Hum Genet. 1999 Dec; 65(6): 1672–1679. Published online 1999 Nov 18. doi: 10.1086/302684

PMCID:: PMC1288378

Abstract Article PDF–523K

Select item 105085918.

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

P L Beales, A M Warner, G A Hitman, R Thakker, F A Flinter

J Med Genet. 1997 Feb; 34(2): 92–98. doi: 10.1136/jmg.34.2.92

PMCID:: PMC1050859

Summary Page Browse PDF–1.4M

Select item 37923419.

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, Raoul C. M. Hennekam, Güven Lüleci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2003 Feb; 72(2): 429–437. Published online 2003 Jan 10. doi: 10.1086/346172

PMCID:: PMC379234

Abstract Article PDF–495K

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