Publications:

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Diverse monogenic subforms of human spermatogenic failure.

Nature Communications

Nagirnaja, Liina L; Lopes, Alexandra M AM; Charng, Wu-Lin WL; Miller, Brian B; Stakaitis, Rytis R; Golubickaite, Ieva I; Stendahl, Alexandra A; Luan, Tianpengcheng T; Friedrich, Corinna C; Mahyari, Eisa E; Fadial, Eloise E; Kasak, Laura L; Vigh-Conrad, Katinka K; Oud, Manon S MS; Xavier, Miguel J MJ; Cheers, Samuel R SR; James, Emma R ER; Guo, Jingtao J; Jenkins, Timothy G TG; Riera-Escamilla, Antoni A; Barros, Alberto A; Carvalho, Filipa F; Fernandes, Susana S; Gonçalves, João J; Gurnett, Christina A CA; Jørgensen, Niels N; Jezek, Davor D; Jungheim, Emily S ES; Kliesch, Sabine S; McLachlan, Robert I RI; Omurtag, Kenan R KR; Pilatz, Adrian A; Sandlow, Jay I JI; Smith, James J; Eisenberg, Michael L ML; Hotaling, James M JM; Jarvi, Keith A KA; Punab, Margus M; Rajpert-De Meyts, Ewa E; Carrell, Douglas T DT; Krausz, Csilla C; Laan, Maris M; O'Bryan, Moira K MK; Schlegel, Peter N PN; Tüttelmann, Frank F; Veltman, Joris A JA; Almstrup, Kristian K; Aston, Kenneth I KI; Conrad, Donald F DF

Publication Date: 2022-12-26

Variant appearance in text: CCDC40: 850G>C; Asp284His; rs201042940

PubMed Link: 36572685

Variant Present in the following documents:

• 41467_2022_35661_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A Study on the Genetics of Primary Ciliary Dyskinesia.

Journal Of Clinical Medicine

Alsamri, Mohammed T MT; Alabdouli, Amnah A; Iram, Durdana D; Alkalbani, Alia M AM; Almarzooqi, Ayesha S AS; Souid, Abdul-Kader AK; Vijayan, Ranjit R

Publication Date: 2021-10-30

Variant appearance in text: CCDC40: 850G>C; Asp284His; rs201042940

PubMed Link: 34768622

Variant Present in the following documents:

• Main text
• jcm-10-05102.pdf

View BVdb publication page

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Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Frontiers In Endocrinology

Precone, Vincenza V; Cannarella, Rossella R; Paolacci, Stefano S; Busetto, Gian Maria GM; Beccari, Tommaso T; Stuppia, Liborio L; Tonini, Gerolamo G; Zulian, Alessandra A; Marceddu, Giuseppe G; Calogero, Aldo E AE; Bertelli, Matteo M

Publication Date: 2020

Variant appearance in text: CCDC40: 850G>C; Asp284His; rs201042940

PubMed Link: 33574797

Variant Present in the following documents:

• Main text
• fendo-11-605237.pdf

View BVdb publication page

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: CCDC40: 850G>C; Asp284His; rs201042940

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: CCDC40: D284H; rs201042940

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CCDC40: 850G>C; D284H

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: CCDC40: D284H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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