Publications:

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Isolated Coarctation of the Aorta: Current Concepts and Perspectives.

Frontiers In Cardiovascular Medicine

Bhatt, Ami B AB; Lantin-Hermoso, Maria R MR; Daniels, Curt J CJ; Jaquiss, Robert R; Landis, Benjamin John BJ; Marino, Bradley S BS; Rathod, Rahul H RH; Vincent, Robert N RN; Keller, Bradley B BB; Villafane, Juan J

Publication Date: 2022

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 35694677

Variant Present in the following documents:

• Main text
• fcvm-09-817866.pdf

View BVdb publication page

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Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports

Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL

Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 33436855

Variant Present in the following documents:

• 41598_2020_80613_MOESM1_ESM.pdf

View BVdb publication page

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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: NOTCH1: 3836G>A; Arg1279His; rs61751543

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine

Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J

Publication Date: 2020-02-18

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 32070411

Variant Present in the following documents:

• 13073_2020_717_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: NOTCH1: 3836G>A; R1279H; rs61751543

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: NOTCH1: 3836G>A; R1279H; rs61751543

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: NOTCH1: 3836G>A

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: NOTCH1: 3836G>A; R1279H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Genetic Epidemiology

Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR

Publication Date: 2019-03

Variant appearance in text: NOTCH1: 3836G>A; Arg1279His; rs61751543

PubMed Link: 30511478

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumorigenicity-associated characteristics of human iPS cell lines.

Plos One

Yasuda, Satoshi S; Kusakawa, Shinji S; Kuroda, Takuya T; Miura, Takumi T; Tano, Keiko K; Takada, Nozomi N; Matsuyama, Satoko S; Matsuyama, Akifumi A; Nasu, Michiyo M; Umezawa, Akihiro A; Hayakawa, Takao T; Tsutsumi, Hideki H; Sato, Yoji Y

Publication Date: 2018

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 30286143

Variant Present in the following documents:

• pone.0205022.s007.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 3836G>A; Arg1279His; rs61751543

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4
• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 2

View BVdb publication page

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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: NOTCH1: 3836G>A; Arg1279His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL.

Biomed Research International

Irtyuga, Olga O; Malashicheva, Anna A; Zhiduleva, Ekaterina E; Freylikhman, Olga O; Rotar, Oxana O; Bäck, Magnus M; Tarnovskaya, Svetlana S; Kostareva, Anna A; Moiseeva, Olga O

Publication Date: 2017

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 28246602

Variant Present in the following documents:

• Main text
• BMRI2017-6917907.pdf

View BVdb publication page

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Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.

Cancer Letters

Hayes, Tyler F TF; Benaich, Nathan N; Goldie, Stephen J SJ; Sipilä, Kalle K; Ames-Draycott, Ashley A; Cai, Wenjun W; Yin, Guangliang G; Watt, Fiona M FM

Publication Date: 2016-12-01

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 27693639

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: NOTCH1: 3836G>A; R1279H; rs61751543

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology

Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL

Publication Date: 2016-06

Variant appearance in text: NOTCH1: 3836G>A; R1279H

PubMed Link: 27284491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing in one family with gastric- and rectal cancer.

Bmc Genetics

Thutkawkorapin, Jessada J; Picelli, Simone S; Kontham, Vinaykumar V; Liu, Tao T; Nilsson, Daniel D; Lindblom, Annika A

Publication Date: 2016-02-13

Variant appearance in text: rs61751543

PubMed Link: 26872740

Variant Present in the following documents:

• Main text
• 12863_2016_Article_351.pdf

View BVdb publication page

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Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

International Journal Of Cancer

Sakai, Eiji E; Fukuyo, Masaki M; Ohata, Ken K; Matsusaka, Keisuke K; Doi, Noriteru N; Mano, Yasunobu Y; Takane, Kiyoko K; Abe, Hiroyuki H; Yagi, Koichi K; Matsuhashi, Nobuyuki N; Fukushima, Junichi J; Fukayama, Masashi M; Akagi, Kiwamu K; Aburatani, Hiroyuki H; Nakajima, Atsushi A; Kaneda, Atsushi A

Publication Date: 2016-04-01

Variant appearance in text: NOTCH1: 3836G>A; R1279H

PubMed Link: 26510091

Variant Present in the following documents:

• IJC-138-1634-s001.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs61751543

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

View BVdb publication page

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Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Leukemia

Tenedini, E E; Bernardis, I I; Artusi, V V; Artuso, L L; Roncaglia, E E; Guglielmelli, P P; Pieri, L L; Bogani, C C; Biamonte, F F; Rotunno, G G; Mannarelli, C C; Bianchi, E E; Pancrazzi, A A; Fanelli, T T; Malagoli Tagliazucchi, G G; Ferrari, S S; Manfredini, R R; Vannucchi, A M AM; Tagliafico, E E; ,

Publication Date: 2014-05

Variant appearance in text: NOTCH1: R1279H; rs61751543

PubMed Link: 24150215

Variant Present in the following documents:

• leu2013302x7.xls, sheet 1

View BVdb publication page

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A patient tumor transplant model of squamous cell cancer identifies PI3K inhibitors as candidate therapeutics in defined molecular bins.

Molecular Oncology

Keysar, Stephen B SB; Astling, David P DP; Anderson, Ryan T RT; Vogler, Brian W BW; Bowles, Daniel W DW; Morton, J Jason JJ; Paylor, Jeramiah J JJ; Glogowska, Magdalena J MJ; Le, Phuong N PN; Eagles-Soukup, Justin R JR; Kako, Severine L SL; Takimoto, Sarah M SM; Sehrt, Daniel B DB; Umpierrez, Adrian A; Pittman, Morgan A MA; Macfadden, Sarah M SM; Helber, Ryan M RM; Peterson, Scott S; Hausman, Diana F DF; Said, Sherif S; Leem, Ted H TH; Goddard, Julie A JA; Arcaroli, John J JJ; Messersmith, Wells A WA; Robinson, William A WA; Hirsch, Fred R FR; Varella-Garcia, Marileila M; Raben, David D; Wang, Xiao-Jing XJ; Song, John I JI; Tan, Aik-Choon AC; Jimeno, Antonio A

Publication Date: 2013-08

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 23607916

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Human Molecular Genetics

McBride, Kim L KL; Riley, Maurisa F MF; Zender, Gloria A GA; Fitzgerald-Butt, Sara M SM; Towbin, Jeffrey A JA; Belmont, John W JW; Cole, Susan E SE

Publication Date: 2008-09-15

Variant appearance in text: NOTCH1: R1279H

PubMed Link: 18593716

Variant Present in the following documents:

• Main text

View BVdb publication page

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