Publications:

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Human Genomics

Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK

Publication Date: 2022-12-20

Variant appearance in text: SCN2A: 3457G>C; Glu1153Gln; rs200138205

PubMed Link: 36539902

Variant Present in the following documents:

• 40246_2022_444_MOESM2_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: SCN2A: E1153Q; rs200138205

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications

Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L

Publication Date: 2022-01-10

Variant appearance in text: SCN2A: 3457G>C; E1153Q

PubMed Link: 35013309

Variant Present in the following documents:

• 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications

Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L

Publication Date: 2022-01-10

Variant appearance in text: SCN2A: 3457G>C; E1153Q

PubMed Link: 35013309

Variant Present in the following documents:

• 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs200138205

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page