Publications:

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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: rs8176235

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs8176235

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer

Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM

Publication Date: 2019-08-15

Variant appearance in text: rs8176235

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s004.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs8176235

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs8176235

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: rs8176235

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, 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: rs8176235

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.

Prostate Cancer And Prostatic Diseases

Sanchez, A A; Schoenfeld, J D JD; Nguyen, P L PL; Fiorentino, M M; Chowdhury, D D; Stampfer, M J MJ; Sesso, H D HD; Giovannucci, E E; Mucci, L A LA; Shui, I M IM

Publication Date: 2016-06

Variant appearance in text: rs8176235

PubMed Link: 26926928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: rs8176235

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

Nucleic Acids Research

Tessereau, Chloé C; Lesecque, Yann Y; Monnet, Nastasia N; Buisson, Monique M; Barjhoux, Laure L; Léoné, Mélanie M; Feng, Bingjian B; Goldgar, David E DE; Sinilnikova, Olga M OM; Mousset, Sylvain S; Duret, Laurent L; Mazoyer, Sylvie S

Publication Date: 2014-08

Variant appearance in text: rs8176235

PubMed Link: 25034697

Variant Present in the following documents:

• supp_gku639_nar-00908-d-2014-File008.xlsx, sheet 1

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A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Bmc Medical Genetics

Garcia-Casado, Zaida Z; Romero, Ignacio I; Fernandez-Serra, Antonio A; Rubio, Luis L; Llopis, Francisco F; Garcia, Ana A; Llombart, Pilar P; Lopez-Guerrero, Jose A JA

Publication Date: 2011-10-11

Variant appearance in text: rs8176235

PubMed Link: 21989022

Variant Present in the following documents:

• Main text
• 1471-2350-12-134.pdf

View BVdb publication page

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