Publications:

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A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell

Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J

Publication Date: 2023-04-24

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology

Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P

Publication Date: 2022

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp

PubMed Link: 36387175

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Journal Of Hepatology

Sumazin, Pavel P; Peters, Tricia L TL; Sarabia, Stephen F SF; Kim, Hyunjae R HR; Urbicain, Martin M; Hollingsworth, Emporia Faith EF; Alvarez, Karla R KR; Perez, Cintia R CR; Pozza, Alice A; Najaf Panah, Mohammad Javad MJ; Epps, Jessica L JL; Scorsone, Kathy K; Zorman, Barry B; Katzenstein, Howard H; O'Neill, Allison F AF; Meyers, Rebecka R; Tiao, Greg G; Geller, Jim J; Ranganathan, Sarangarajan S; Rangaswami, Arun A AA; Woodfield, Sarah E SE; Goss, John A JA; Vasudevan, Sanjeev A SA; Heczey, Andras A; Roy, Angshumoy A; Fisher, Kevin E KE; Alaggio, Rita R; Patel, Kalyani R KR; Finegold, Milton J MJ; López-Terrada, Dolores H DH

Publication Date: 2022-10

Variant appearance in text: NOTCH1: 2734C>T; R912W

PubMed Link: 35577029

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

The Journal Of Pathology

Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA

Publication Date: 2022-07

Variant appearance in text: NOTCH1: R912W

PubMed Link: 35220606

Variant Present in the following documents:

• PATH-257-274-s001.xlsx, sheet 7

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s002.xlsx, sheet 2
• ADVS-9-2103360-s007.xlsx, sheet 2

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 2734C>T; R912W; rs201620358

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 2734C>T; R912W; rs201620358

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

Ossifying Fibroma of Non-odontogenic Origin: A Fibro-osseous Lesion in the Craniofacial Skeleton to be (Re-)considered.

Head And Neck Pathology

Baumhoer, Daniel D; Haefliger, Simon S; Ameline, Baptiste B; Hartmann, Wolfgang W; Amary, Fernanda F; Cleven, Arjen A; Klein, Michael J MJ; Thompson, Lester D R LDR; Harder, Dorothee D; O'Donnell, Paul P

Publication Date: 2022-03

Variant appearance in text: NOTCH1: R912W

PubMed Link: 34173971

Variant Present in the following documents:

• Main text
• 12105_2021_Article_1351.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.

Cancers

Mosquera Orgueira, Adrián A; Cid López, Miguel M; Peleteiro Raíndo, Andrés A; Díaz Arias, José Ángel JÁ; Antelo Rodríguez, Beatriz B; Bao Pérez, Laura L; Alonso Vence, Natalia N; Bendaña López, Ángeles Á; Abuin Blanco, Aitor A; Melero Valentín, Paula P; Ferreiro Ferro, Roi R; Aliste Santos, Carlos C; Fraga Rodríguez, Máximo Francisco MF; González Pérez, Marta Sonia MS; Pérez Encinas, Manuel Mateo MM; Bello López, José Luis JL

Publication Date: 2021-03-16

Variant appearance in text: NOTCH1: R912W

PubMed Link: 33809641

Variant Present in the following documents:

• Main text
• cancers-13-01340.pdf

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: NOTCH1: 2734C>T; R912W

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: NOTCH1: R912W

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
• 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: NOTCH1: 2734C>T; R912W

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Association of high-risk neuroblastoma classification based on expression profiles with differentiation and metabolism.

Plos One

Kimura, Shunsuke S; Sekiguchi, Masahiro M; Watanabe, Kentaro K; Hiwatarai, Mitsuteru M; Seki, Masafumi M; Yoshida, Kenichi K; Isobe, Tomoya T; Shiozawa, Yusuke Y; Suzuki, Hiromichi H; Hoshino, Noriko N; Hayashi, Yasuhide Y; Oka, Akira A; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2021

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 33465163

Variant Present in the following documents:

• pone.0245526.s011.xlsx, sheet 1

View BVdb publication page

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NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.

Molecular Genetics & Genomic Medicine

Michelini, Sandro S; Ricci, Maurizio M; Serrani, Roberta R; Barati, Shila S; Kenanoglu, Sercan S; Veselenyiova, Dominika D; Kurti, Danjela D; Baglivo, Mirko M; Basha, Syed Hussain SH; Priya, Sasi S; Dautaj, Astrit A; Dundar, Munis M; Krajcovic, Juraj J; Bertelli, Matteo M

Publication Date: 2021-01

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 33247628

Variant Present in the following documents:

• Main text
• MGG3-9-e1529.pdf

View BVdb publication page

---

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications

Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J

Publication Date: 2020-10-14

Variant appearance in text: NOTCH1: R912W

PubMed Link: 33056981

Variant Present in the following documents:

• 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular Genetics & Genomic Medicine

Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK

Publication Date: 2020-10

Variant appearance in text: NOTCH1: Arg912Trp

PubMed Link: 32748548

Variant Present in the following documents:

• Main text
• MGG3-8-e1406.pdf

View BVdb publication page

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Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr

Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP

Publication Date: 2020-04-15

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 32295625

Variant Present in the following documents:

• 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.

Human Genetics

Butz, Henriett H; Nyírő, Gábor G; Kurucz, Petra Anna PA; Likó, István I; Patócs, Attila A

Publication Date: 2021-01

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp

PubMed Link: 32222824

Variant Present in the following documents:

• Main text
• 439_2020_Article_2148.pdf

View BVdb publication page

---

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Frontiers In Genetics

Flück, Christa E CE; Audí, Laura L; Fernández-Cancio, Mónica M; Sauter, Kay-Sara KS; Martinez de LaPiscina, Idoia I; Castaño, Luis L; Esteva, Isabel I; Camats, Núria N

Publication Date: 2019

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 31555317

Variant Present in the following documents:

• Main text
• fgene-10-00746.pdf

View BVdb publication page

---

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: 2734C>T; R912W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Nonsyndromic craniosynostosis: novel coding variants.

Pediatric Research

Sewda, Anshuman A; White, Sierra R SR; Erazo, Monica M; Hao, Ke K; García-Fructuoso, Gemma G; Fernández-Rodriguez, Ivette I; Heuzé, Yann Y; Richtsmeier, Joan T JT; Romitti, Paul A PA; Reva, Boris B; Jabs, Ethylin Wang EW; Peter, Inga I

Publication Date: 2019-03

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 30651579

Variant Present in the following documents:

• Main text
• nihms-1518148.pdf

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: NOTCH1: 2734C>T; Arg912Trp; rs201620358

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 5
• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

---

A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: NOTCH1: R912W

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

View BVdb publication page

---

Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports

Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J

Publication Date: 2017-08-24

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 28839234

Variant Present in the following documents:

• 41598_2017_10175_MOESM3_ESM.xls, sheet 1
• 41598_2017_10175_MOESM4_ESM.xls, sheet 1

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: 2734C>T; Arg912Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: NOTCH1: R912W; rs201620358

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: NOTCH1: 2734C>T; R912W

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics.

Oncotarget

Munchel, Sarah S; Hoang, Yen Y; Zhao, Yue Y; Cottrell, Joseph J; Klotzle, Brandy B; Godwin, Andrew K AK; Koestler, Devin D; Beyerlein, Peter P; Fan, Jian-Bing JB; Bibikova, Marina M; Chien, Jeremy J

Publication Date: 2015-09-22

Variant appearance in text: NOTCH1: R912W

PubMed Link: 26305677

Variant Present in the following documents:

• Main text

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: NOTCH1: 2734C>T; R912W

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget

Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G

Publication Date: 2014-12-30

Variant appearance in text: NOTCH1: R912W

PubMed Link: 25587027

Variant Present in the following documents:

• Main text
• oncotarget-05-12635-s001.pdf
• oncotarget-05-12635.pdf

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Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.

Nature Communications

Rakheja, Dinesh D; Chen, Kenneth S KS; Liu, Yangjian Y; Shukla, Abhay A AA; Schmid, Vanessa V; Chang, Tsung-Cheng TC; Khokhar, Shama S; Wickiser, Jonathan E JE; Karandikar, Nitin J NJ; Malter, James S JS; Mendell, Joshua T JT; Amatruda, James F JF

Publication Date: 2014-09-05

Variant appearance in text: NOTCH1: R912W

PubMed Link: 25190313

Variant Present in the following documents:

• ncomms5802-s4.xlsx, sheet 1

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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: R912W; rs201620358

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: NOTCH1: R912W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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