PMC Links for Books (Select 1491628) - PMC

Ximena M. Bustamante-Marin, Adam Shapiro, Patrick R. Sears, Wu-Lin Charng, Donald F. Conrad, Margaret W. Leigh, Michael R. Knowles, Lawrence E. Ostrowski, Maimoona A. Zariwala

J Hum Genet. Author manuscript; available in PMC 2020 Apr 21.

Published in final edited form as: J Hum Genet. 2020 Jan; 65(2): 175–180. Published online 2019 Oct 21. doi: 10.1038/s10038-019-0686-1

PMCID:: PMC6920546

Abstract Article PDF–843K

Select item 68709874.

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases

Zofia N. Zysman-Colman, Kimberley R. Kaspy, Reza Alizadehfar, Keith R. NyKamp, Maimoona A. Zariwala, Michael R. Knowles, Donald C. Vinh, Adam J. Shapiro

J Clin Immunol. Author manuscript; available in PMC 2020 Mar 26.

Published in final edited form as: J Clin Immunol. 2019 Feb; 39(2): 216–224. Published online 2019 Mar 26. doi: 10.1007/s10875-019-00613-8

PMCID:: PMC6870987

Abstract Article PDF–924K

Select item 68491145.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Julia Wallmeier, Diana Frank, Amelia Shoemark, Tabea Nöthe-Menchen, Sandra Cindric, Heike Olbrich, Niki T. Loges, Isabella Aprea, Gerard W. Dougherty, Petra Pennekamp, Thomas Kaiser, Hannah M. Mitchison, Claire Hogg, Siobhán B. Carr, Maimoona A. Zariwala, Thomas Ferkol, Margaret W. Leigh, Stephanie D. Davis, Jeffrey Atkinson, Susan K. Dutcher, Michael R. Knowles, Holger Thiele, Janine Altmüller, Henrike Krenz, Marius Wöste, Angela Brentrup, Frank Ahrens, Christian Vogelberg, Deborah J. Morris-Rosendahl, Heymut Omran

Am J Hum Genet. 2019 Nov 7; 105(5): 1030–1039. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.022

PMCID:: PMC6849114

Abstract Article PDF–3.2M

Select item 67323186.

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala

Mol Genet Genomic Med. 2019 Sep; 7(9): e911. Published online 2019 Aug 1. doi: 10.1002/mgg3.911

PMCID:: PMC6732318

Abstract Article PDF–762K

Select item 62883207.

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, Robert A. Hirst, France Koll, Pierrick le Borgne, Bruno Louis, Farheen Daudvohra, Mitali P. Patel, Lucie Thomas, Mellisa Dixon, Thomas Burgoyne, Joseph Hayes, Andrew G. Nicholson, Thomas Cullup, Lucy Jenkins, Siobhán B. Carr, Paul Aurora, Michel Lemullois, Anne Aubusson-Fleury, Jean-François Papon, Christopher O’Callaghan, Serge Amselem, Claire Hogg, Estelle Escudier, Anne-Marie Tassin, Hannah M. Mitchison

Am J Hum Genet. 2018 Dec 6; 103(6): 984–994. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.016

PMCID:: PMC6288320

Abstract Article PDF–3.2M

Select item 62882058.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heymut Omran, Miriam Schmidts

Am J Hum Genet. 2018 Dec 6; 103(6): 995–1008. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.020

PMCID:: PMC6288205

Abstract Article PDF–2.9M

Select item 61378979.

Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis

Adam J. Shapiro, Maureen Josephson, Margaret Rosenfeld, Ozge Yilmaz, Stephanie D. Davis, Deepika Polineni, Elena Guadagno, Margaret W. Leigh, Valery Lavergne

Ann Am Thorac Soc. 2017 Jul; 14(7): 1184–1196. doi: 10.1513/AnnalsATS.201701-062SR

PMCID:: PMC6137897

Abstract Article PDF–868K

Select item 600641110.

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

Adam J. Shapiro, Stephanie D. Davis, Deepika Polineni, Michele Manion, Margaret Rosenfeld, Sharon D. Dell, Mark A. Chilvers, Thomas W. Ferkol, Maimoona A. Zariwala, Scott D. Sagel, Maureen Josephson, Lucy Morgan, Ozge Yilmaz, Kenneth N. Olivier, Carlos Milla, Jessica E. Pittman, M. Leigh Anne Daniels, Marcus Herbert Jones, Ibrahim A. Janahi, Stephanie M. Ware, Sam J. Daniel, Matthew L. Cooper, Lawrence M. Nogee, Billy Anton, Tori Eastvold, Lynn Ehrne, Elena Guadagno, Michael R. Knowles, Margaret W. Leigh, , on behalf of the American Thoracic Society Assembly on Pediatrics

Am J Respir Crit Care Med. 2018 Jun 15; 197(12): e24–e39. Published online 2018 Jun 15. doi: 10.1164/rccm.201805-0819ST

PMCID:: PMC6006411

Abstract Article PDF–724K

Select item 598673111.

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran

Am J Hum Genet. 2018 May 3; 102(5): 973–984. Published online 2018 May 3. doi: 10.1016/j.ajhg.2018.03.025

PMCID:: PMC5986731

Abstract Article PDF–2.9M

Select item 598672012.

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Mahmoud R. Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M.K. Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R. Mitchell, Anne-Marie Tassin, Hannah M. Mitchison

Am J Hum Genet. 2018 May 3; 102(5): 956–972. Published online 2018 May 3. doi: 10.1016/j.ajhg.2018.03.024

PMCID:: PMC5986720

Abstract Article PDF–3.2M

Select item 551996013.

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

Amelia Shoemark, Emily Frost, Mellisa Dixon, Sarah Ollosson, Kate Kilpin, Mitali Patel, Juliet Scully, Andrew V. Rogers, Hannah M. Mitchison, Andrew Bush, Claire Hogg

Am J Respir Crit Care Med. 2017 Jul 1; 196(1): 94–101. Published online 2017 Jul 1. doi: 10.1164/rccm.201607-1351OC

PMCID:: PMC5519960

Abstract Article PDF–880K

Select item 530980314.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

Nat Commun. 2017; 8: 14279. Published online 2017 Feb 8. doi: 10.1038/ncomms14279

PMCID:: PMC5309803

Abstract Article PDF–5.7M

Select item 530645115.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Adrien Frommer, Rim Hjeij, Niki T. Loges, Christine Edelbusch, Charlotte Jahnke, Johanna Raidt, Claudius Werner, Julia Wallmeier, Jörg Große-Onnebrink, Heike Olbrich, Sandra Cindrić, Martine Jaspers, Mieke Boon, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, June K. Marthin, Kim G. Nielsen, Israel Amirav, Nael Elias, Eitan Kerem, David Shoseyov, Karsten Haeffner, Heymut Omran

Am J Respir Cell Mol Biol. 2015 Oct; 53(4): 563–573. doi: 10.1165/rcmb.2014-0483OC

PMCID:: PMC5306451

Abstract Article PDF–1.2M

Select item 522309416.

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019

PMCID:: PMC5223094

Abstract Article PDF–1.9M

Select item 502107517.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Margaret W. Leigh, Thomas W. Ferkol, Stephanie D. Davis, Hye-Seung Lee, Margaret Rosenfeld, Sharon D. Dell, Scott D. Sagel, Carlos Milla, Kenneth N. Olivier, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Adam J. Shapiro, Johnny L. Carson, Jeffrey Krischer, Milan J. Hazucha, Michael R. Knowles

Ann Am Thorac Soc. 2016 Aug; 13(8): 1305–1313. doi: 10.1513/AnnalsATS.201511-748OC

PMCID:: PMC5021075

Abstract Article PDF–618K

Select item 497411118.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Emilie Bequignon, Benoit Vallette, Philippe Duquesnoy, Guy Montantin, Bruno Copin, Florence Dastot-Le Moal, Sylvain Blanchon, Jean François Papon, Patrick Lorès, Li Yuan, Nathalie Collot, Sylvie Tissier, Catherine Faucon, Gérard Gacon, Catherine Patrat, Jean Philippe Wolf, Emmanuel Dulioust, Bruno Crestani, Estelle Escudier, André Coste, Marie Legendre, Aminata Touré, Serge Amselem

Am J Hum Genet. 2016 Aug 4; 99(2): 489–500. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.06.022

PMCID:: PMC4974111

Abstract Article PDF–2.1M

Select item 497408919.

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Julia Wallmeier, Hidetaka Shiratori, Gerard W. Dougherty, Christine Edelbusch, Rim Hjeij, Niki T. Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Sascha Sauer, John B. Wallingford, Hiroshi Hamada, Heymut Omran

Am J Hum Genet. 2016 Aug 4; 99(2): 460–469. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.06.014

PMCID:: PMC4974089

Abstract Article PDF–2.6M

Select item 473192520.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

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