Publications:

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: MLC1: A351A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: MLC1: A351A

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLC1: 1053T>C; Ala351=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget

Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K

Publication Date: 2015-12-22

Variant appearance in text: MLC1: 1053T>C; A351A

PubMed Link: 26496030

Variant Present in the following documents:

• oncotarget-06-43452-s003.xlsx, sheet 1

View BVdb publication page