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Select item 106309111.

Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma

Zebing Song, Xiaodong Song, Hang Li, Zongbing Cheng, Zengyi Mo, Xuewei Yang

Front Immunol. 2023; 14: 1236995. Published online 2023 Oct 25. doi: 10.3389/fimmu.2023.1236995

PMCID:: PMC10630911

Article PDF–3.9M

Select item 93075082.

Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness

Jaehyun Joo, Angel C. Y. Mak, Shujie Xiao, Patrick M. Sleiman, Donglei Hu, Scott Huntsman, Celeste Eng, Mengyuan Kan, Avantika R. Diwakar, Jessica A. Lasky-Su, Scott T. Weiss, Joanne E. Sordillo, Ann C. Wu, Michelle Cloutier, Glorisa Canino, Erick Forno, Juan C. Celedón, Max A. Seibold, Hakon Hakonarson, L. Keoki Williams, Esteban G. Burchard, Blanca E. Himes

Sci Rep. 2022; 12: 12514. Published online 2022 Jul 22. doi: 10.1038/s41598-022-16488-6

PMCID:: PMC9307508

Article PDF–1.4M

Select item 90867553.

Novel homozygous mutations of DNAH5 in Kartagener syndrome

Xian-Dong Cheng, Fang Ni, Yang Lu

QJM. 2022 May; 115(5): 319–320. Published online 2021 Dec 28. doi: 10.1093/qjmed/hcab330

PMCID:: PMC9086755

Article PDF–300K

Select item 83640534.

Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review

Lina Wang, Xin Zhao, Hang Liang, Li Zhang, Chunyan Li, Deli Li, Xiangfeng Meng, Fanzheng Meng, Mao Gao

BMC Pulm Med. 2021; 21: 263. Published online 2021 Aug 14. doi: 10.1186/s12890-021-01586-4

PMCID:: PMC8364053

Article PDF–1.5M

Select item 53557245.

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisawa

Mol Med Rep. 2016 Dec; 14(6): 5077–5083. Published online 2016 Oct 21. doi: 10.3892/mmr.2016.5871

PMCID:: PMC5355724

Article PDF–967K

Select item 53064126.

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Xuan Xu, Ping Gong, Jie Wen

J Assist Reprod Genet. 2017 Feb; 34(2): 275–281. Published online 2016 Dec 17. doi: 10.1007/s10815-016-0849-3

PMCID:: PMC5306412

Article PDF–2.2M

Select item 41696367.

DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease

Jin Hwa Lee, Merry-Lynn N McDonald, Michael H Cho, Emily S Wan, Peter J Castaldi, Gary M Hunninghake, Nathaniel Marchetti, David A Lynch, James D Crapo, David A Lomas, Harvey O Coxson, Per S Bakke, Edwin K Silverman, Craig P Hersh, the COPDGene and ECLIPSE Investigators

Respir Res. 2014; 15(1): 97. Published online 2014 Aug 20. doi: 10.1186/s12931-014-0097-y

PMCID:: PMC4169636

Article PDF–1.6M

Select item 71933468.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

BMC Med Genet. 2020; 21: 87. Published online 2020 May 1. doi: 10.1186/s12881-020-01020-2

PMCID:: PMC7193346

Article PDF–3.6M

Select item 36653639.

Primary ciliary dyskinesia: improving the diagnostic approach

Margaret W. Leigh, Maimoona A. Zariwala, Michael R. Knowles

Curr Opin Pediatr. Author manuscript; available in PMC 2013 May 28.

Published in final edited form as: Curr Opin Pediatr. 2009 Jun; 21(3): 320–325. doi: 10.1097/MOP.0b013e328329cddb

PMCID:: PMC3665363

Article PDF–110K

Select item 303728010.

Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing

Jared C. Roach, Gustavo Glusman, Arian F.A. Smit, Chad D. Huff, Robert Hubley, Paul T. Shannon, Lee Rowen, Krishna P. Pant, Nathan Goodman, Michael Bamshad, Jay Shendure, Radoje Drmanac, Lynn B. Jorde, Leroy Hood, David J. Galas

Science. Author manuscript; available in PMC 2011 Feb 10.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 636–639. Published online 2010 Mar 10. doi: 10.1126/science.1186802

PMCID:: PMC3037280

Article PDF–717K

Select item 803522011.

Genome-wide association analysis of cognitive function in Danish long-lived individuals

Marianne Nygaard, Joseph Dowsett, Matt McGue, Kaare Christensen, Lene Christiansen, Qihua Tan, Jonas Mengel-From

Mech Ageing Dev. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Mech Ageing Dev. 2021 Apr; 195: 111463. Published online 2021 Feb 16. doi: 10.1016/j.mad.2021.111463

PMCID:: PMC8035220

Article PDF–824K

Select item 365309312.

Three New Single Nucleotide Polymorphisms Identified by a Genome-Wide Association Study in Korean Patients with Vitiligo

Kyung Ah Cheong, Nan-Hyung Kim, Minsoo Noh, Ai-Young Lee

J Korean Med Sci. 2013 May; 28(5): 775–779. Published online 2013 May 2. doi: 10.3346/jkms.2013.28.5.775

PMCID:: PMC3653093

Article PDF–426K

Select item 266290413.

DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

Nada Hornef, Heike Olbrich, Judit Horvath, Maimoona A. Zariwala, Manfred Fliegauf, Niki Tomas Loges, Johannes Wildhaber, Peadar G. Noone, Marcus Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüsslein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, Heymut Omran

Am J Respir Crit Care Med. 2006 Jul 15; 174(2): 120–126. Published online 2006 Apr 20. doi: 10.1164/rccm.200601-084OC

PMCID:: PMC2662904

Article PDF–187K

Select item 388861314.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, UK10K, Hannah M Mitchison

J Med Genet. 2014 Jan; 51(1): 61–67. Published online 2013 Nov 7. doi: 10.1136/jmedgenet-2013-101938

PMCID:: PMC3888613

Article PDF–8.3M

Select item 354245815.

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Michael R. Knowles, Margaret W. Leigh, Lawrence E. Ostrowski, Lu Huang, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Jonathan S. Berg, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Margaret Rosenfeld, Scott D. Sagel, Carlos E. Milla, Kenneth N. Olivier, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Maimoona A. Zariwala, the Genetic Disorders of Mucociliary Clearance Consortium

Am J Hum Genet. 2013 Jan 10; 92(1): 99–106. doi: 10.1016/j.ajhg.2012.11.003

PMCID:: PMC3542458

Article PDF–768K

Select item 302980116.

Gene-Environment Interaction in the Etiology of Mathematical Ability Using SNP Sets

Sophia J. Docherty, Yulia Kovas, Robert Plomin

Behav Genet. 2011; 41(1): 141–154. Published online 2010 Oct 27. doi: 10.1007/s10519-010-9405-6

PMCID:: PMC3029801

Article PDF–277K

Select item 271847817.

Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus Kennedy, Michael R. Knowles, Heymut Omran

Am J Respir Crit Care Med. 2005 Jun 15; 171(12): 1343–1349. Published online 2005 Mar 4. doi: 10.1164/rccm.200411-1583OC

PMCID:: PMC2718478

Article PDF–578K

Select item 266802818.

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Niki Tomas Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horvath, Manfred Fliegauf, Heiner Kuhl, Gyorgy Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O'Callaghan, Hannah Blau, Laszlo Tiszlavicz, Katarzyna Voelkel, Michal Witt, Ewa Ziętkiewicz, Juergen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran

Am J Hum Genet. 2008 Nov 17; 83(5): 547–558. doi: 10.1016/j.ajhg.2008.10.001

PMCID:: PMC2668028

Article PDF–861K

Select item 199560519.

Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study

Christopher J O'Donnell, L Adrienne Cupples, Ralph B D'Agostino, Caroline S Fox, Udo Hoffmann, Shih-Jen Hwang, Erik Ingellson, Chunyu Liu, Joanne M Murabito, Joseph F Polak, Philip A Wolf, Serkalem Demissie

BMC Med Genet. 2007; 8(Suppl 1): S4. Published online 2007 Sep 19. doi: 10.1186/1471-2350-8-S1-S4

PMCID:: PMC1995605

Article PDF–323K

Select item 459689320.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

Heike Olbrich, Carolin Cremers, Niki T. Loges, Claudius Werner, Kim G. Nielsen, June K. Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W. Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran

Am J Hum Genet. 2015 Oct 1; 97(4): 546–554. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.012

PMCID:: PMC4596893

Article PDF–1.4M

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