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: NOTCH1: P1641S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: NOTCH1: P1641S

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Kidney International Reports

Denicolò, Sara S; Vogi, Verena V; Keller, Felix F; Thöni, Stefanie S; Eder, Susanne S; Heerspink, Hiddo J L HJL; Rosivall, László L; Wiecek, Andrzej A; Mark, Patrick B PB; Perco, Paul P; Leierer, Johannes J; Kronbichler, Andreas A; Steger, Marion M; Schwendinger, Simon S; Zschocke, Johannes J; Mayer, Gert G; Jukic, Emina E

Publication Date: 2022-04

Variant appearance in text: NOTCH1: 4921C>T; Pro1641Ser

PubMed Link: 35497780

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: P1641S

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: NOTCH1: P1641S

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

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NOTCH1 Signaling in Head and Neck Squamous Cell Carcinoma.

Cells

Shah, Pooja A PA; Huang, Chenfei C; Li, Qiuli Q; Kazi, Sawad A SA; Byers, Lauren A LA; Wang, Jing J; Johnson, Faye M FM; Frederick, Mitchell J MJ

Publication Date: 2020-12-12

Variant appearance in text: NOTCH1: P1641S

PubMed Link: 33322834

Variant Present in the following documents:

• Main text
• cells-09-02677.pdf

View BVdb publication page

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