Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Knaup, Karl X KX; Schneider, Karen K; Uebe, Steffen S; Park, Jonghun J; Bafna, Vineet V; Meiselbach, Heike H; Eckardt, Kai-Uwe KU; Schiffer, Mario M; Reis, André A; Kraus, Cornelia C; Wiesener, Michael M

Publication Date: 2022-12

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 36100708

Variant Present in the following documents:

• 41431_2022_1177_MOESM1_ESM.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: MYH9: S1114P

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: MYH9: S1114P; rs200901330

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Human Mutation

Bury, Loredana L; Megy, Karyn K; Stephens, Jonathan C JC; Grassi, Luigi L; Greene, Daniel D; Gleadall, Nick N; Althaus, Karina K; Allsup, David D; Bariana, Tadbir K TK; Bonduel, Mariana M; Butta, Nora V NV; Collins, Peter P; Curry, Nicola N; Deevi, Sri V V SVV; Downes, Kate K; Duarte, Daniel D; Elliott, Kim K; Falcinelli, Emanuela E; Furie, Bruce B; Keeling, David D; Lambert, Michele P MP; Linger, Rachel R; Mangles, Sarah S; Mapeta, Rutendo R; Millar, Carolyn M CM; Penkett, Christopher C; Perry, David J DJ; Stirrups, Kathleen E KE; Turro, Ernest E; Westbury, Sarah K SK; Wu, John J; BioResource, Nihr N; Gomez, Keith K; Freson, Kathleen K; Ouwehand, Willem H WH; Gresele, Paolo P; Simeoni, Ilenia I

Publication Date: 2020-01

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 31562665

Variant Present in the following documents:

• HUMU-41-277-s001.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: MYH9: S1114P

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: MYH9: S1114P

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1
• NIHMS1511993-supplement-7.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics

Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH

Publication Date: 2018-10-04

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 30245029

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: MYH9: 3340T>C; Ser1114Pro

PubMed Link: 29907799

Variant Present in the following documents:

• Main text
• 41436_2018_Article_4.pdf

View BVdb publication page

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MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Gene

Pecci, Alessandro A; Ma, Xuefei X; Savoia, Anna A; Adelstein, Robert S RS

Publication Date: 2018-07-20

Variant appearance in text: MYH9: 3340T>C

PubMed Link: 29679756

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MYH9: 3340T>C; S1114P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: MHA: S1114P

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: MYH9: S1114P

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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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Genome Medicine

Westbury, Sarah K SK; Turro, Ernest E; Greene, Daniel D; Lentaigne, Claire C; Kelly, Anne M AM; Bariana, Tadbir K TK; Simeoni, Ilenia I; Pillois, Xavier X; Attwood, Antony A; Austin, Steve S; Jansen, Sjoert Bg SB; Bakchoul, Tamam T; Crisp-Hihn, Abi A; Erber, Wendy N WN; Favier, Rémi R; Foad, Nicola N; Gattens, Michael M; Jolley, Jennifer D JD; Liesner, Ri R; Meacham, Stuart S; Millar, Carolyn M CM; Nurden, Alan T AT; Peerlinck, Kathelijne K; Perry, David J DJ; Poudel, Pawan P; Schulman, Sol S; Schulze, Harald H; Stephens, Jonathan C JC; Furie, Bruce B; Robinson, Peter N PN; van Geet, Chris C; Rendon, Augusto A; Gomez, Keith K; Laffan, Michael A MA; Lambert, Michele P MP; Nurden, Paquita P; Ouwehand, Willem H WH; Richardson, Sylvia S; Mumford, Andrew D AD; Freson, Kathleen K; ,

Publication Date: 2015

Variant appearance in text: MYH9: S1114P

PubMed Link: 25949529

Variant Present in the following documents:

• Main text
• 13073_2015_Article_151.pdf

View BVdb publication page

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Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Molecular Genetics & Genomic Medicine

Saposnik, Béatrice B; Binard, Sylvie S; Fenneteau, Odile O; Nurden, Alan A; Nurden, Paquita P; Hurtaud-Roux, Marie-Françoise MF; Schlegel, Nicole N; ,

Publication Date: 2014-07

Variant appearance in text: MYH9: 3340T>C

PubMed Link: 25077172

Variant Present in the following documents:

• Main text
• mgg30002-0297.pdf

View BVdb publication page

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Genetic contribution and associated pathophysiology in end-stage renal disease.

The Application Of Clinical Genetics

Agrawal, Suraksha S; Agarwal, Ss S; Naik, Sita S

Publication Date: 2010

Variant appearance in text: MYH9: S1114P

PubMed Link: 23776353

Variant Present in the following documents:

• tacg-3-065.pdf

View BVdb publication page

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Non-muscle myosin II takes centre stage in cell adhesion and migration.

Nature Reviews. Molecular Cell Biology

Vicente-Manzanares, Miguel M; Ma, Xuefei X; Adelstein, Robert S RS; Horwitz, Alan Rick AR

Publication Date: 2009-11

Variant appearance in text: MYH9: S1114P

PubMed Link: 19851336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

American Journal Of Human Genetics

Heath, K E KE; Campos-Barros, A A; Toren, A A; Rozenfeld-Granot, G G; Carlsson, L E LE; Savige, J J; Denison, J C JC; Gregory, M C MC; White, J G JG; Barker, D F DF; Greinacher, A A; Epstein, C J CJ; Glucksman, M J MJ; Martignetti, J A JA

Publication Date: 2001-11

Variant appearance in text: MYH9: S1114P

PubMed Link: 11590545

Variant Present in the following documents:

• Main text

View BVdb publication page

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