PMC Links for Books (Select 1466650) - PMC

Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander G. Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 12.

Published in final edited form as: Am J Med Genet A. 2017 Jul; 173(7): 1796–1812. Published online 2017 May 12. doi: 10.1002/ajmg.a.38272

PMCID:: PMC5682233

Abstract Article PDF–1.0M

Select item 55808008.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque

Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273

PMCID:: PMC5580800

Abstract Article PDF–2.4M

Select item 55172949.

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

J Med Genet. Author manuscript; available in PMC 2017 Jul 19.

Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 830–839. Published online 2015 Sep 18. doi: 10.1136/jmedgenet-2015-103316

PMCID:: PMC5517294

Abstract Article PDF–1.1M

Select item 508242810.

Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D

J Med Genet. Author manuscript; available in PMC 2016 Oct 27.

Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087

PMCID:: PMC5082428

Abstract Article PDF–504K

Select item 506008711.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

J Med Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250

PMCID:: PMC5060087

Abstract Article PDF–1.6M

Select item 501308912.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente

J Med Genet. 2016 Sep; 53(9): 608–615. Published online 2016 May 6. doi: 10.1136/jmedgenet-2016-103832

PMCID:: PMC5013089

Abstract Article PDF–797K

Select item 495575413.

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

Susanne Roosing, Rasim O. Rosti, Basak Rosti, Erik de Vrieze, Jennifer L. Silhavy, Erwin van Wijk, Emma Wakeling, Joseph G. Gleeson

Hum Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Hum Genet. 2016 Aug; 135(8): 919–921. Published online 2016 May 31. doi: 10.1007/s00439-016-1689-z

PMCID:: PMC4955754

Abstract Article PDF–241K

Select item 471720614.

Joubert syndrome: genotyping a Northern European patient cohort

Hester Y Kroes, Glen R Monroe, Bert van der Zwaag, Karen J Duran, Carolien G de Kovel, Mark J van Roosmalen, Magdalena Harakalova, Ies J Nijman, Wigard P Kloosterman, Rachel H Giles, Nine VAM Knoers, Gijs van Haaften

Eur J Hum Genet. 2016 Feb; 24(2): 214–220. Published online 2015 Apr 29. doi: 10.1038/ejhg.2015.84

PMCID:: PMC4717206

Abstract Article PDF–310K

Select item 470060015.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron

BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z

PMCID:: PMC4700600

Abstract Article PDF–935K

Select item 469935816.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie E. Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn H. Huynen, Marius Ueffing, Rob B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

Genome Biol. 2015; 16: 293. Published online 2015 Dec 29. doi: 10.1186/s13059-015-0858-z

PMCID:: PMC4699358

Abstract Article PDF–4.0M

Select item 466710317.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne-Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean-Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet-Bianco, Jean-François Soucy, Anne-Marie Laberge, Catalina Maftei, Care4Rare Canada Consortium, Kym Boycott, Bernard Brais, Renée-Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit Shalev, Jacques L. Michaud

Am J Hum Genet. 2015 Nov 5; 97(5): 744–753. Published online 2015 Oct 17. doi: 10.1016/j.ajhg.2015.09.009

PMCID:: PMC4667103

Abstract Article PDF–594K

Select item 457327018.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Am J Hum Genet. 2015 Aug 6; 97(2): 311–318. doi: 10.1016/j.ajhg.2015.06.003

Correction in:: Am J Hum Genet. 2015 Aug 6; 97(2): 353.

PMCID:: PMC4573270

Abstract Article PDF–1.4M

Select item 454475319.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 453732720.

KIAA0586 is mutated in Joubert syndrome

Ruxandra Bachmann-Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, University of Washington Center for Mendelian Genomics, Jay Shendure, Dan Doherty

Hum Mutat. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Hum Mutat. 2015 Sep; 36(9): 831–835. Published online 2015 Jul 2. doi: 10.1002/humu.22821

PMCID:: PMC4537327

Abstract Article PDF–629K

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