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Items: 1 to 20 of 24

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
2.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
3.
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Orphanet J Rare Dis. 2020; 15: 36. Published online 2020 Feb 1. doi: 10.1186/s13023-020-1303-2
PMCID:
PMC6995138
AbstractArticlePDF–1.2M
4.
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane
Wenyan Xu, Miaomiao Jin, Ruikun Hu, Hong Wang, Fan Zhang, Shiaulou Yuan, Ying Cao
J Am Soc Nephrol. 2017 Jan; 28(1): 118–129. Published online 2016 Jul 8. doi: 10.1681/ASN.2015080906
PMCID:
PMC5198270
AbstractArticle
5.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael Geraghty, Matthew A. Lines, Thierry Lacaze-Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment
CMAJ. 2016 Aug 9; 188(11): E254–E260. doi: 10.1503/cmaj.150823
PMCID:
PMC4978597
AbstractArticlePDF–92K
6.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
José A. Caparrós-Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia Temtamy, Ghada A. Otaify, Mennat Mehrez, María Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda-Arenas, Karen E. Heath, Maria Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Victor L. Ruiz-Perez
Hum Mol Genet. 2015 Jul 15; 24(14): 4126–4137. Published online 2015 Apr 23. doi: 10.1093/hmg/ddv152
PMCID:
PMC4560068
AbstractArticlePDF–820K
7.
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
AbstractArticlePDF–960K
8.
WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype
Carlos A. Bacino, Shweta U. Dhar, Nicola Brunetti-Pierri, Brendan Lee, Penelope E. Bonnen
Am J Med Genet A. Author manuscript; available in PMC 2014 Apr 27.
Published in final edited form as: Am J Med Genet A. 2012 Nov; 0(11): 2917–2924. Published online 2012 Sep 17. doi: 10.1002/ajmg.a.35608
PMCID:
PMC4000731
AbstractArticlePDF–1.0M
9.
Architecture and function of IFT complex proteins in ciliogenesis
Michael Taschner, Sagar Bhogaraju, Esben Lorentzen
Differentiation. Author manuscript; available in PMC 2014 Apr 7.
Published in final edited form as: Differentiation. 2012 Feb; 83(2): S12–S22. Published online 2011 Nov 25. doi: 10.1016/j.diff.2011.11.001
PMCID:
PMC3977345
AbstractArticlePDF–1.2M
10.
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia
Anas M Alazami, Mohammed Zain Seidahmed, Fatema Alzahrani, Adam O Mohammed, Fowzan S Alkuraya
Mol Genet Genomic Med. 2014 Mar; 2(2): 103–106. Published online 2013 Dec 10. doi: 10.1002/mgg3.44
PMCID:
PMC3960051
AbstractArticlePDF–1.1M
11.
Ciliopathies
Friedhelm Hildebrandt, Thomas Benzing, Nicholas Katsanis
N Engl J Med. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: N Engl J Med. 2011 Apr 21; 364(16): 1533–1543. doi: 10.1056/NEJMra1010172
PMCID:
PMC3640822
AbstractArticlePDF–3.1M
12.
Current insights into renal ciliopathies: what can genetics teach us?
Heleen H. Arts, Nine V. A. M. Knoers
Pediatr Nephrol. 2013; 28(6): 863–874. Published online 2012 Jul 25. doi: 10.1007/s00467-012-2259-9
PMCID:
PMC3631122
AbstractArticlePDF–496K
13.
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A.M. Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Pietrement, Jamal Goumid, Clarisse Baumann, Christine Bole-Feysot, Patrick Nitschke, Mohammed Zahrate, Philip Beales, Heleen H. Arts, Arnold Munnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet
Am J Hum Genet. 2012 May 4; 90(5): 864–870. doi: 10.1016/j.ajhg.2012.03.006
PMCID:
PMC3376548
AbstractArticlePDF–667K
14.
The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking
Karel F. Liem, Jr., Alyson Ashe, Mu He, Peter Satir, Jennifer Moran, David Beier, Carol Wicking, Kathryn V. Anderson
J Cell Biol. 2012 Jun 11; 197(6): 789–800. doi: 10.1083/jcb.201110049
PMCID:
PMC3373400
AbstractArticlePDF–2.6M
15.
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M. Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan-Stephan F. Sanders, Irene Stolte-Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Cécile Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine V.A.M. Knoers, Ronald Roepman, Heleen H. Arts
Am J Hum Genet. 2011 Nov 11; 89(5): 634–643. doi: 10.1016/j.ajhg.2011.10.001
PMCID:
PMC3213394
AbstractArticlePDF–822K
16.
Complex Interactions Between Genes Controlling Trafficking in Primary Cilia
Polloneal Jymmiel R. Ocbina, Jonathan T. Eggenschwiler, Ivan P. Moskowitz, Kathryn V. Anderson
Nat Genet. Author manuscript; available in PMC 2011 Nov 8.
Published in final edited form as: Nat Genet. 2011 May 8; 43: 547–553. doi: 10.1038/ng.832
PMCID:
PMC3132150
AbstractArticlePDF–2.8M
17.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, NISC Comparative Sequencing Program, Gabor Gyapay, Susanne Reiger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis
Nat Genet. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 189–196. Published online 2011 Jan 23. doi: 10.1038/ng.756
PMCID:
PMC3071301
AbstractArticlePDF–1.9M
18.
Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W. Kuss
Am J Hum Genet. 2010 Jun 11; 86(6): 949–956. doi: 10.1016/j.ajhg.2010.04.012
PMCID:
PMC3032067
AbstractArticlePDF–1.0M
19.
Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components
Jian Qin, Yulian Lin, Ryan X. Norman, Hyuk W. Ko, Jonathan T. Eggenschwiler
Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4): 1456–1461. Published online 2011 Jan 5. doi: 10.1073/pnas.1011410108
PMCID:
PMC3029728
AbstractArticlePDF–1023K
20.
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner
Am J Hum Genet. 2010 Sep 10; 87(3): 418–423. doi: 10.1016/j.ajhg.2010.08.004
PMCID:
PMC2933349
AbstractArticlePDF–692K

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