Publications:

---

Mucociliary Clearance Augmenting Drugs Block SARS-Cov-2 Replication in Human Bronchial Epithelial Cells.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Campos-Gomez, Javier J; Fernandez Petty, Courtney C; Mazur, Marina M; Tang, Liping L; Solomon, George M GM; Joseph, Reny R; Li, Qian Q; Lever, Jacelyn E Peabody JEP; Hussain, Shah Saddad SS; Harrod, Kevin S KS; Onuoha, Ezinwanne E EE; Kim, Harrison H; Rowe, Steven M SM

Publication Date: 2023-02-21

Variant appearance in text: DNAI1: Arg124Cys

PubMed Link: 36809189

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

Diagnostics (Basel, Switzerland)

De Jesús-Rojas, Wilfredo W; Muñiz-Hernández, José J; Alvarado-Huerta, Francisco F; Meléndez-Montañez, Jesús M JM; Santos-López, Arnaldo J AJ; Mosquera, Ricardo A RA

Publication Date: 2022-05-02

Variant appearance in text: DNAI1: 370C>T; Arg124Cys

PubMed Link: 35626283

Variant Present in the following documents:

• diagnostics-12-01127.pdf

View BVdb publication page

---

Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Cureus

Caballero-Colón, Ninoshka M NM; Guan, Yuhong Y; Yang, Haiming H; Zhao, Shuying S; De Jesús-Rojas, Wilfredo W

Publication Date: 2021-06

Variant appearance in text: DNAI1: 370C>T; Arg124Cys

PubMed Link: 34277212

Variant Present in the following documents:

• Main text
• cureus-0013-00000015591.pdf

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: DNAI1: R124C; rs116938457

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

---

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: DNAI1: 370C>T; Arg124Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: DNAI1: R124C; rs116938457

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: DNAI1: 370C>T; R124C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: DNAI1: R124C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

---