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: 225: S171A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 511T>G

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: 225: S171A

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: 225: S171A

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 511T>G

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.xlsx, sheet 1

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: 225: S171A

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: 225: S171A

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: 225: S171A

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: 225: 511T>G

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.

Nature Cell Biology

Larsen, Dorthe H DH; Hari, Flurina F; Clapperton, Julie A JA; Gwerder, Myriam M; Gutsche, Katrin K; Altmeyer, Matthias M; Jungmichel, Stephanie S; Toledo, Luis I LI; Fink, Daniel D; Rask, Maj-Britt MB; Grøfte, Merete M; Lukas, Claudia C; Nielsen, Michael L ML; Smerdon, Stephen J SJ; Lukas, Jiri J; Stucki, Manuel M

Publication Date: 2014-08

Variant appearance in text: 225: S171A

PubMed Link: 25064736

Variant Present in the following documents:

• Main text

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Apple juice greatly reduces systemic exposure to atenolol.

British Journal Of Clinical Pharmacology

Jeon, Hyewon H; Jang, In-Jin IJ; Lee, SeungHwan S; Ohashi, Kyoichi K; Kotegawa, Tsutomu T; Ieiri, Ichiro I; Cho, Joo-Youn JY; Yoon, Seo Hyun SH; Shin, Sang-Goo SG; Yu, Kyung-Sang KS; Lim, Kyoung Soo KS

Publication Date: 2013-01

Variant appearance in text: 225: 511T>G

PubMed Link: 22574741

Variant Present in the following documents:

• Main text

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Engineering thrombin for selective specificity toward protein C and PAR1.

The Journal Of Biological Chemistry

Marino, Francesca F; Pelc, Leslie A LA; Vogt, Austin A; Gandhi, Prafull S PS; Di Cera, Enrico E

Publication Date: 2010-06-18

Variant appearance in text: 225: S171A

PubMed Link: 20404340

Variant Present in the following documents:

• Main text

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