Publications:

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Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C

Publication Date: 2023-01-17

Variant appearance in text: MSH4: 2741G>A; S914N

PubMed Link: 36648487

Variant Present in the following documents:

• ccr-22-2903_supplementary_data_2_suppds2.xlsx, sheet 3

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MSH4: S914N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: MSH4: S914N; rs5745549

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: MSH4: S914N

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A case report of multiple primary prostate tumors with differential drug sensitivity.

Nature Communications

Wilkinson, Scott S; Harmon, Stephanie A SA; Terrigino, Nicholas T NT; Karzai, Fatima F; Pinto, Peter A PA; Madan, Ravi A RA; VanderWeele, David J DJ; Lake, Ross R; Atway, Rayann R; Bright, John R JR; Carrabba, Nicole V NV; Trostel, Shana Y SY; Lis, Rosina T RT; Chun, Guinevere G; Gulley, James L JL; Merino, Maria J MJ; Choyke, Peter L PL; Ye, Huihui H; Dahut, William L WL; Turkbey, Baris B; Sowalsky, Adam G AG

Publication Date: 2020-02-13

Variant appearance in text: MSH4: S914N

PubMed Link: 32054861

Variant Present in the following documents:

• 41467_2020_14657_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Genes

Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J

Publication Date: 2019-08-01

Variant appearance in text: MSH4: Ser914Asn; rs5745549

PubMed Link: 31374908

Variant Present in the following documents:

• Main text
• genes-10-00586.pdf

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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: MSH4: S914N; rs5745549

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.

Anticancer Research

Kappil, Maya M; Terry, Mary Beth MB; Delgado-Cruzata, Lissette L; Liao, Yuyan Y; Santella, Regina M RM

Publication Date: 2016-09

Variant appearance in text: rs5745549

PubMed Link: 27630279

Variant Present in the following documents:

• Main text

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: rs5745549

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: MSH4: S914N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: MSH4: S914N; rs5745549

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.

Current Genomics

Clark, Nicole N; Wu, Xiling X; Her, Chengtao C

Publication Date: 2013-04

Variant appearance in text: MSH4: S914N

PubMed Link: 24082819

Variant Present in the following documents:

• Main text
• CG-14-81.pdf

View BVdb publication page

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DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics

Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C

Publication Date: 2013

Variant appearance in text: rs5745549

PubMed Link: 23565320

Variant Present in the following documents:

• Main text

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Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

Bmc Cancer

Conde, João J; Silva, Susana N SN; Azevedo, Ana P AP; Teixeira, Valdemar V; Pina, Julieta Esperança JE; Rueff, José J; Gaspar, Jorge F JF

Publication Date: 2009-09-25

Variant appearance in text: rs5745549

PubMed Link: 19781088

Variant Present in the following documents:

• Main text
• 1471-2407-9-344.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: MSH4: S914N; rs5745549

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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Variants in the GH-IGF axis confer susceptibility to lung cancer.

Genome Research

Rudd, Matthew F MF; Webb, Emily L EL; Matakidou, Athena A; Sellick, Gabrielle S GS; Williams, Richard D RD; Bridle, Helen H; Eisen, Tim T; Houlston, Richard S RS; ,

Publication Date: 2006-06

Variant appearance in text: MSH4: S914N

PubMed Link: 16741161

Variant Present in the following documents:

• Main text

View BVdb publication page

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