Publications:

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A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.

Signal Transduction And Targeted Therapy

Luo, Rongcan R; Fan, Yu Y; Yang, Jing J; Ye, Maosen M; Zhang, Deng-Feng DF; Guo, Kun K; Li, Xiao X; Bi, Rui R; Xu, Min M; Yang, Lu-Xiu LX; Li, Yu Y; Ran, Xiaoqian X; Jiang, Hong-Yan HY; Zhang, Chen C; Tan, Liwen L; Sheng, Nengyin N; Yao, Yong-Gang YG

Publication Date: 2021-08-31

Variant appearance in text: DMD: K1510R

PubMed Link: 34465723

Variant Present in the following documents:

• Main text
• 41392_2021_Article_748.pdf

View BVdb publication page

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DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

Bmc Medical Genomics

Zhong, Xingjian X; Cui, Siying S; Liu, Lina L; Yang, Yuxia Y; Kong, Xiangdong X

Publication Date: 2021-07-08

Variant appearance in text: DMD: Lys1510Arg

PubMed Link: 34238289

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1024.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: DMD: 4529A>G; K1510R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 4529A>G; Lys1510Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Cold Spring Harbor Molecular Case Studies

Nordfors, Kristiina K; Haapasalo, Joonas J; Afyounian, Ebrahim E; Tuominen, Joonas J; Annala, Matti M; Häyrynen, Sergei S; Karhu, Ritva R; Helén, Pauli P; Lohi, Olli O; Nykter, Matti M; Haapasalo, Hannu H; Granberg, Kirsi J KJ

Publication Date: 2018-04

Variant appearance in text: DMD: 4529A>G; K1510R; rs72468638

PubMed Link: 29602769

Variant Present in the following documents:

• supp_mcs.a002246_Supplemental_Table_1.xlsx, sheet 1

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: DMD: 4529A>G; K1510R; rs72468638

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs72468638

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.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: DMD: K1510R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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