Publications:

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Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.

International Journal Of Clinical And Experimental Pathology

Yin, Feng F; Wang, Kai K; Hu, Ming M; Starostik, Petr P; Newsom, Kimberly J KJ; Liu, Xiuli X

Publication Date: 2022

Variant appearance in text: NOTCH4: 4037G>C; Arg1346Pro

PubMed Link: 35145582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: NOTCH4: 4037G>C; R1346P; rs8192573

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

International Journal Of Molecular Sciences

Scimone, Concetta C; Granata, Francesca F; Longo, Marcello M; Mormina, Enricomaria E; Turiaco, Cristina C; Caragliano, Antonio A AA; Donato, Luigi L; Sidoti, Antonina A; D'Angelo, Rosalia R

Publication Date: 2020-06-17

Variant appearance in text: rs8192573

PubMed Link: 32560555

Variant Present in the following documents:

• ijms-21-04321.pdf

View BVdb publication page

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Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget

Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-05-08

Variant appearance in text: NOTCH4: R1346P

PubMed Link: 29844865

Variant Present in the following documents:

• oncotarget-09-23960-s003.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs8192573

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NOTCH4: R1346P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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An Investigation of the Relationship between the eNOS Gene Polymorphism and Diagnosed Migraine.

Balkan Journal Of Medical Genetics : Bjmg

Güler, S S; Gürkan, H H; Tozkir, H H; Turan, N N; Çelik, Y Y

Publication Date: 2014-12

Variant appearance in text: NOTCH4: R1346P

PubMed Link: 25937798

Variant Present in the following documents:

• Main text
• bjmg-17-02-49.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: NOTCH4: R1346P; rs8192573

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: NOTCH4: R1346P; rs8192573

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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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: NOTCH4: 4037G>C; R1346P

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: NOTCH4: R1346P; rs8192573

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic variants in the NOTCH4 gene influence the clinical features of migraine.

The Journal Of Headache And Pain

Rubino, Elisa E; Fenoglio, Pierpaola P; Gallone, Salvatore S; Govone, Flora F; Vacca, Alessandro A; De Martino, Paola P; Giobbe, Maria Laura ML; Boschi, Silvia S; Pinessi, Lorenzo L; Gentile, Salvatore S; Rainero, Innocenzo I

Publication Date: 2013-03-26

Variant appearance in text: NOTCH4: R1346P; rs8192573

PubMed Link: 23566281

Variant Present in the following documents:

• Main text
• 1129-2377-14-28.pdf

View BVdb publication page

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