Publications:

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: ZC3H3: 1646C>T; Ser549Leu

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Npj Genomic Medicine

Giannuzzi, Giuliana G; Chatron, Nicolas N; Mannik, Katrin K; Auwerx, Chiara C; Pradervand, Sylvain S; Willemin, Gilles G; Hoekzema, Kendra K; Nuttle, Xander X; Chrast, Jacqueline J; Sadler, Marie C MC; Porcu, Eleonora E; , ; Herault, Yann Y; Isidor, Bertrand B; Gilbert-Dussardier, Brigitte B; Eichler, Evan E EE; Kutalik, Zoltan Z; Reymond, Alexandre A

Publication Date: 2022-06-17

Variant appearance in text: ZC3H3: S549L; rs149025999

PubMed Link: 35715439

Variant Present in the following documents:

• Main text
• 41525_2022_Article_308.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs149025999

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Alzheimer'S Research & Therapy

Paracchini, Lara L; Beltrame, Luca L; Boeri, Lucia L; Fusco, Federica F; Caffarra, Paolo P; Marchini, Sergio S; Albani, Diego D; Forloni, Gianluigi G

Publication Date: 2018-10-12

Variant appearance in text: ZC3H3: 1646C>T

PubMed Link: 30309378

Variant Present in the following documents:

• Main text
• 13195_2018_Article_435.pdf

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: ZC3H3: S549L; rs149025999

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 4

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: ZC3H3: S549L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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