Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KCTD7: R112C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 5

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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R112C

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: KCTD7: 334C>T; Arg112Cys; rs769991459

PubMed Link: 34288589

Variant Present in the following documents:

• MGG3-9-e1756-s001.xlsx, sheet 1

View BVdb publication page

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: KCTD7: 334C>T; Arg112Cys; rs769991459

PubMed Link: 34288589

Variant Present in the following documents:

• MGG3-9-e1756-s001.xlsx, sheet 1

View BVdb publication page

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Movement Disorders Clinical Practice

Ebrahimi-Fakhari, Darius D; Hildebrandt, Clara C; Davis, Peter E PE; Rodan, Lance H LH; Anselm, Irina I; Bodamer, Olaf O

Publication Date: 2018

Variant appearance in text: KCTD7: 334C>T

PubMed Link: 29930972

Variant Present in the following documents:

• Main text

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