Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Salakhov, Ramil R RR; Golubenko, Maria V MV; Valiakhmetov, Nail R NR; Pavlyukova, Elena N EN; Zarubin, Aleksei A AA; Babushkina, Nadezhda P NP; Kucher, Aksana N AN; Sleptcov, Aleksei A AA; Nazarenko, Maria S MS

Publication Date: 2022-12-13

Variant appearance in text: rs3730238

PubMed Link: 36555486

Variant Present in the following documents:

• ijms-23-15845.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TNNT2: K263R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine

Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J

Publication Date: 2022-02

Variant appearance in text: rs3730238

PubMed Link: 35284542

Variant Present in the following documents:

• Main text
• atm-10-03-129-supplementary.pdf
• atm-10-03-129.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs3730238

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Data In Brief

Dejgaard, Lars A LA; Haland, Trine F TF; Lie, Oyvind H OH; Ribe, Margareth M; Bjune, Thea T; Leren, Ida Skrinde IS; Berge, Knut Erik KE; Edvardsen, Thor T; Haugaa, Kristina H KH

Publication Date: 2017-12

Variant appearance in text: rs3730238

PubMed Link: 28971120

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3730238

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Biomed Research International

Zhao, Yue Y; Feng, Yue Y; Zhang, Yun-Mei YM; Ding, Xiao-Xue XX; Song, Yu-Zhu YZ; Zhang, A-Mei AM; Liu, Li L; Zhang, Hong H; Ding, Jia-Huan JH; Xia, Xue-Shan XS

Publication Date: 2015

Variant appearance in text: rs3730238

PubMed Link: 26199943

Variant Present in the following documents:

• Main text
• BMRI2015-561819.pdf

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TNNT2: K263R; rs3730238

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: rs3730238

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics

Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR

Publication Date: 2012-03-19

Variant appearance in text: rs3730238

PubMed Link: 22429680

Variant Present in the following documents:

• Main text
• 1471-2350-13-17.pdf

View BVdb publication page

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