Publications:

---

Mutational signature of extracranial meningioma metastases and their respective primary tumors.

Acta Neuropathologica Communications

Biczok, A A; Thorsteinsdottir, J J; Karschnia, P P; Ruf, V C VC; Tonn, J C JC; Herms, J J; Schichor, C C; Dorostkar, M M MM

Publication Date: 2023-01-14

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 36641486

Variant Present in the following documents:

• 40478_2023_1505_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature.

Neoplasia (New York, N.Y.)

Martens-de Kemp, Sanne R SR; Komor, Malgorzata A MA; Hegi, Rosa R; Bolijn, Anne S AS; Tijssen, Marianne M; de Groen, Florence L M FLM; Depla, Annekatrien A; van Leerdam, Monique M; Meijer, Gerrit A GA; Fijneman, Remond J A RJA; Carvalho, Beatriz B

Publication Date: 2022-10

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 35872559

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

Inflammatory Bowel Diseases

de Krijger, Manon M; Carvalho, Beatriz B; Rausch, Christian C; Bolijn, Anne S AS; Delis-van Diemen, Pien M PM; Tijssen, Marianne M; van Engeland, Manon M; Mostafavi, Nahid N; Bogie, Roel M M RMM; Dekker, Evelien E; Masclee, Ad A M AAM; Verheij, Joanne J; Meijer, Gerrit A GA; Ponsioen, Cyriel Y CY

Publication Date: 2022-09-01

Variant appearance in text: NOTCH1: Arg1350Leu

PubMed Link: 35554535

Variant Present in the following documents:

• Main text
• izac087.pdf
• izac087_suppl_supplementary_material.pdf

View BVdb publication page

---

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)

Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP

Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 4049G>T; Arg1350Leu; rs150343794

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

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: 4049G>T; Arg1350Leu; rs150343794

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: 4049G>T; Arg1350Leu; rs150343794

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Journal Of The American Heart Association

Parker, Lauren E LE; Landstrom, Andrew P AP

Publication Date: 2021-01-19

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 33432820

Variant Present in the following documents:

• Main text
• JAH3-10-e019006.pdf

View BVdb publication page

---

Sensitivity of human meningioma cells to the cyclin-dependent kinase inhibitor, TG02.

Translational Oncology

von Achenbach, Caroline C; Le Rhun, Emilie E; Sahm, Felix F; Wang, Sophie S SS; Sievers, Philipp P; Neidert, Marian C MC; Rushing, Elisabeth J EJ; Lawhon, Tracy T; Schneider, Hannah H; von Deimling, Andreas A; Weller, Michael M

Publication Date: 2020-12

Variant appearance in text: NOTCH1: R1350L; rs150343794

PubMed Link: 32916418

Variant Present in the following documents:

• mmc4.pdf

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: 4049G>T; Arg1350Leu

PubMed Link: 32222824

Variant Present in the following documents:

• Main text
• 439_2020_Article_2148.pdf

View BVdb publication page

---

Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach.

Journal Of Clinical Medicine

Girdauskas, Evaldas E; Kaemmerer, Harald H; von Kodolitsch, Yskert Y

Publication Date: 2020-01-11

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 31940858

Variant Present in the following documents:

• Main text
• jcm-09-00204.pdf

View BVdb publication page

---

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: NOTCH1: R1350L; rs150343794

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.

Genome Research

Edmonson, Michael N MN; Patel, Aman N AN; Hedges, Dale J DJ; Wang, Zhaoming Z; Rampersaud, Evadnie E; Kesserwan, Chimene A CA; Zhou, Xin X; Liu, Yanling Y; Newman, Scott S; Rusch, Michael C MC; McLeod, Clay L CL; Wilkinson, Mark R MR; Rice, Stephen V SV; Soussi, Thierry T; Taylor, J Paul JP; Benatar, Michael M; Becksfort, Jared B JB; Nichols, Kim E KE; Robison, Leslie L LL; Downing, James R JR; Zhang, Jinghui J

Publication Date: 2019-09

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 31439692

Variant Present in the following documents:

• Main text
• 1555.pdf

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: NOTCH1: R1350L

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 11

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: 4049G>T; Arg1350Leu; rs150343794

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

---

Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL).

Leukemia & Lymphoma

Yap, Kai Lee KL; Furtado, Larissa V LV; Kiyotani, Kazuma K; Curran, Emily E; Stock, Wendy W; McNeer, Jennifer L JL; Kadri, Sabah S; Segal, Jeremy P JP; Nakamura, Yusuke Y; Le Beau, Michelle M MM; Gurbuxani, Sandeep S; Raca, Gordana G

Publication Date: 2017-04

Variant appearance in text: NOTCH1: R1350L; rs150343794

PubMed Link: 27855558

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R1350L; rs150343794

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---

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: R1350L

PubMed Link: 18593716

Variant Present in the following documents:

• Main text

View BVdb publication page

---