Publications:

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: rs35585096

PubMed Link: 35053791

Variant Present in the following documents:

• Main text

View BVdb publication page

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: rs35585096

PubMed Link: 35053791

Variant Present in the following documents:

• Main text

View BVdb publication page

Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs35585096

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: rs35585096

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1

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Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine

Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wang, Wei W; Liu, Cheng-Wu CW; Pan, Shang-Ling SL

Publication Date: 2014-07

Variant appearance in text: rs35585096

PubMed Link: 24780069

Variant Present in the following documents:

• Main text
• jcmm0018-1417.pdf

View BVdb publication page