Publications:

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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Bmc Medical Genomics

Wheway, Gabrielle G; Thomas, N Simon NS; Carroll, Mary M; Coles, Janice J; Doherty, Regan R; , ; Goggin, Patricia P; Green, Ben B; Harris, Amanda A; Hunt, David D; Jackson, Claire L CL; Lord, Jenny J; Mennella, Vito V; Thompson, James J; Walker, Woolf T WT; Lucas, Jane S JS

Publication Date: 2021-09-23

Variant appearance in text: DNAH11: 8698C>T; R2900X

PubMed Link: 34556108

Variant Present in the following documents:

• 12920_2021_Article_1084.pdf

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Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: 8698C>T; Arg2900*

PubMed Link: 34405951

Variant Present in the following documents:

• Main text
• JCMM-25-9028.pdf

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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Plos One

Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H

Publication Date: 2021

Variant appearance in text: DNAH11: 8698C>T; Arg2900*

PubMed Link: 34133440

Variant Present in the following documents:

• Main text
• pone.0252786.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: DNAH11: R2900X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: DNAH11: R2900X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DNAH11: 8698C>T; Arg2900Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

American Journal Of Respiratory Cell And Molecular Biology

Dougherty, Gerard W GW; Loges, Niki T NT; Klinkenbusch, Judith A JA; Olbrich, Heike H; Pennekamp, Petra P; Menchen, Tabea T; Raidt, Johanna J; Wallmeier, Julia J; Werner, Claudius C; Westermann, Cordula C; Ruckert, Christian C; Mirra, Virginia V; Hjeij, Rim R; Memari, Yasin Y; Durbin, Richard R; Kolb-Kokocinski, Anja A; Praveen, Kavita K; Kashef, Mohammad A MA; Kashef, Sara S; Eghtedari, Fardin F; Häffner, Karsten K; Valmari, Pekka P; Baktai, György G; Aviram, Micha M; Bentur, Lea L; Amirav, Israel I; Davis, Erica E EE; Katsanis, Nicholas N; Brueckner, Martina M; Shaposhnykov, Artem A; Pigino, Gaia G; Dworniczak, Bernd B; Omran, Heymut H

Publication Date: 2016-08

Variant appearance in text: DNAH11: 8698C>T; Arg2900*

PubMed Link: 26909801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Orphanet Journal Of Rare Diseases

Boon, Mieke M; Smits, Anne A; Cuppens, Harry H; Jaspers, Martine M; Proesmans, Marijke M; Dupont, Lieven J LJ; Vermeulen, Francois L FL; Van Daele, Sabine S; Malfroot, Anne A; Godding, Veronique V; Jorissen, Mark M; De Boeck, Kris K

Publication Date: 2014-01-22

Variant appearance in text: DNAH11: Arg2900*

PubMed Link: 24450482

Variant Present in the following documents:

• Main text
• 1750-1172-9-11.pdf

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