Publications:

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BAY 81-8973 Efficacy and Safety in Previously Untreated and Minimally Treated Children with Severe Hemophilia A: The LEOPOLD Kids Trial.

Thrombosis And Haemostasis

Ljung, Rolf R; Chan, Anthony K C AKC; Glosli, Heidi H; Afonja, Olubunmi O; Becker, Bastian B; Tseneklidou-Stoeter, Despina D; Mancuso, Maria Elisa ME; Saulyte-Trakymiene, Sonata S; Kenet, Gili G

Publication Date: 2023-01

Variant appearance in text: FVIII: 2440C>T

PubMed Link: 36626898

Variant Present in the following documents:

• 10-1055-s-0042-1757876-s22030113.pdf

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Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A.

The New England Journal Of Medicine

George, Lindsey A LA; Monahan, Paul E PE; Eyster, M Elaine ME; Sullivan, Spencer K SK; Ragni, Margaret V MV; Croteau, Stacy E SE; Rasko, John E J JEJ; Recht, Michael M; Samelson-Jones, Benjamin J BJ; MacDougall, Amy A; Jaworski, Kristen K; Noble, Robert R; Curran, Marla M; Kuranda, Klaudia K; Mingozzi, Federico F; Chang, Tiffany T; Reape, Kathleen Z KZ; Anguela, Xavier M XM; High, Katherine A KA

Publication Date: 2021-11-18

Variant appearance in text: FVIII: Arg814x

PubMed Link: 34788507

Variant Present in the following documents:

• Main text

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Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.

Molecular Genetics & Genomic Medicine

Mosaad, Rehab M RM; Amr, Khalda S KS; Rabie, Eman A EA; Mostafa, Naglaa O NO; Habib, Sonia A SA; El-Kamah, Ghada Y GY

Publication Date: 2021-02

Variant appearance in text: FVIII: 2440C>T

PubMed Link: 33342086

Variant Present in the following documents:

• Main text
• MGG3-9-e1575.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: F8: R814*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F

Publication Date: 2020-08-28

Variant appearance in text: F8: R814*

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: F8: R814*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

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Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Frontiers In Pediatrics

Staines Boone, Aidé Tamara AT; Chinn, Ivan K IK; Alaez-Versón, Carmen C; Yamazaki-Nakashimada, Marco A MA; Carrillo-Sánchez, Karol K; García-Cruz, María de la Luz Hortensia MLH; Poli, M Cecilia MC; González Serrano, M Edith ME; Medina Torres, Edgar A EA; Muzquiz Zermeño, David D; Forbes, Lisa R LR; Espinosa-Rosales, Francisco J FJ; Espinosa-Padilla, Sara E SE; Orange, Jordan S JS; Lugo Reyes, Saul Oswaldo SO

Publication Date: 2018

Variant appearance in text: F8: 2440C>T

PubMed Link: 30719430

Variant Present in the following documents:

• Main text
• fped-06-00426.pdf

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: F8: R814X; rs137852437

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y

Publication Date: 2018-01

Variant appearance in text: FVIII: 2440C>T

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: F8: 2440C>T; R814*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: F8: R814*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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Extreme growth failure is a common presentation of ligase IV deficiency.

Human Mutation

Murray, Jennie E JE; Bicknell, Louise S LS; Yigit, Gökhan G; Duker, Angela L AL; van Kogelenberg, Margriet M; Haghayegh, Sara S; Wieczorek, Dagmar D; Kayserili, Hülya H; Albert, Michael H MH; Wise, Carol A CA; Brandon, January J; Kleefstra, Tjitske T; Warris, Adilia A; van der Flier, Michiel M; Bamforth, J Steven JS; Doonanco, Kurston K; Adès, Lesley L; Ma, Alan A; Field, Michael M; Johnson, Diana D; Shackley, Fiona F; Firth, Helen H; Woods, C Geoffrey CG; Nürnberg, Peter P; Gatti, Richard A RA; Hurles, Matthew M; Bober, Michael B MB; Wollnik, Bernd B; Jackson, Andrew P AP

Publication Date: 2014-01

Variant appearance in text: F8: 2440C>T

PubMed Link: 24123394

Variant Present in the following documents:

• Main text
• humu0035-0076.pdf

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