Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: 225: P55S

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.pdf

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: 225: P55S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.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: 225: P55S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: 225: 163C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 163C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: P55S

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: P55S

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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High-resolution association mapping with libraries of immortalized lines from ancestral landraces.

Tag. Theoretical And Applied Genetics. Theoretische Und Angewandte Genetik

Würschum, Tobias T; Weiß, Thea M TM; Renner, Juliane J; Friedrich Utz, H H; Gierl, Alfons A; Jonczyk, Rafal R; Römisch-Margl, Lilla L; Schipprack, Wolfgang W; Schön, Chris-Carolin CC; Schrag, Tobias A TA; Leiser, Willmar L WL; Melchinger, Albrecht E AE

Publication Date: 2022-01

Variant appearance in text: 225: P55S

PubMed Link: 34668978

Variant Present in the following documents:

• 122_2021_Article_3963.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: P55S

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: 225: P55S

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: 225: 163C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: 225: 163C>T

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: 225: 163C>T

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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APOBEC3B-mediated corruption of the tumor cell immunopeptidome induces heteroclitic neoepitopes for cancer immunotherapy.

Nature Communications

Driscoll, Christopher B CB; Schuelke, Matthew R MR; Kottke, Timothy T; Thompson, Jill M JM; Wongthida, Phonphimon P; Tonne, Jason M JM; Huff, Amanda L AL; Miller, Amber A; Shim, Kevin G KG; Molan, Amy A; Wetmore, Cynthia C; Selby, Peter P; Samson, Adel A; Harrington, Kevin K; Pandha, Hardev H; Melcher, Alan A; Pulido, Jose S JS; Harris, Reuben R; Evgin, Laura L; Vile, Richard G RG

Publication Date: 2020-02-07

Variant appearance in text: 225: Pro55Ser

PubMed Link: 32034147

Variant Present in the following documents:

• 41467_2020_14568_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

The American Journal Of Tropical Medicine And Hygiene

Mahajan, Niranjan Prakash NP; Lavania, Mallika M; Singh, Itu I; Nashi, Saraswati S; Preethish-Kumar, Veeramani V; Vengalil, Seena S; Polavarapu, Kiran K; Pradeep-Chandra-Reddy, Chevula C; Keerthipriya, Muddasu M; Mahadevan, Anita A; Yasha, Tagaduru Chickabasaviah TC; Nandeesh, Bevinahalli Nanjegowda BN; Gnanakumar, Krishnamurthy K; Parry, Gareth J GJ; Sengupta, Utpal U; Nalini, Atchayaram A

Publication Date: 2020-03

Variant appearance in text: 225: Pro55Ser

PubMed Link: 31933458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications

Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ

Publication Date: 2019-09-05

Variant appearance in text: 225: 163C>T

PubMed Link: 31488816

Variant Present in the following documents:

• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 3

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 163C>T

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: 225: 163C>T

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: 225: P55S

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget

Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG

Publication Date: 2017-03-28

Variant appearance in text: 225: P55S

PubMed Link: 28423505

Variant Present in the following documents:

• oncotarget-08-21290-s007.xlsx, sheet 1

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 163C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: 225: P55S

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page

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Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.

Scientific Reports

Maekawa, Motoko M; Iwayama, Yoshimi Y; Ohnishi, Tetsuo T; Toyoshima, Manabu M; Shimamoto, Chie C; Hisano, Yasuko Y; Toyota, Tomoko T; Balan, Shabeesh S; Matsuzaki, Hideo H; Iwata, Yasuhide Y; Takagai, Shu S; Yamada, Kohei K; Ota, Motonori M; Fukuchi, Satoshi S; Okada, Yohei Y; Akamatsu, Wado W; Tsujii, Masatsugu M; Kojima, Nobuhiko N; Owada, Yuji Y; Okano, Hideyuki H; Mori, Norio N; Yoshikawa, Takeo T

Publication Date: 2015-11-09

Variant appearance in text: 225: 163C>T

PubMed Link: 26548558

Variant Present in the following documents:

• srep16239.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: P55S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Mutations in the reverse transcriptase and protease genes of human immunodeficiency virus-1 from antiretroviral naïve and treated pediatric patients.

Viruses

Bure, Dinesh D; Makhdoomi, Muzamil A MA; Lodha, Rakesh R; Prakash, Somi Sankaran SS; Kumar, Rajesh R; Parray, Hilal A HA; Singh, Ravinder R; Kabra, Sushil K SK; Luthra, Kalpana K

Publication Date: 2015-02-10

Variant appearance in text: 225: P55S

PubMed Link: 25674767

Variant Present in the following documents:

• viruses-07-00590.pdf

View BVdb publication page

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Mutated tumor alleles are expressed according to their DNA frequency.

Scientific Reports

Castle, John C JC; Loewer, Martin M; Boegel, Sebastian S; Tadmor, Arbel D AD; Boisguerin, Valesca V; de Graaf, Jos J; Paret, Claudia C; Diken, Mustafa M; Kreiter, Sebastian S; Türeci, Özlem Ö; Sahin, Ugur U

Publication Date: 2014-04-22

Variant appearance in text: 225: P55S

PubMed Link: 24752137

Variant Present in the following documents:

• srep04743-s1.xls, sheet 2

View BVdb publication page

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Combinations of protein-chemical complex structures reveal new targets for established drugs.

Plos Computational Biology

Kalinina, Olga V OV; Wichmann, Oliver O; Apic, Gordana G; Russell, Robert B RB

Publication Date: 2011-05

Variant appearance in text: 225: P55S

PubMed Link: 21573205

Variant Present in the following documents:

• pcbi.1002043.s001.pdf

View BVdb publication page

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