Publications:

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Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.

Biorxiv : The Preprint Server For Biology

Ratnasinghe, Brian D BD; Haque, Neshatul N; Wagenknecht, Jessica B JB; Jensen, Davin R DR; Esparza, Guadalupe V GV; Leverence, Elise N EN; De Assuncao, Thiago Milech TM; Mathison, Angela J AJ; Lomberk, Gwen G; Smith, Brian C BC; Volkman, Brian F BF; Urrutia, Raul R; Zimmermann, Michael T MT

Publication Date: 2023-04-28

Variant appearance in text: KRAS: Q22R

PubMed Link: 37207265

Variant Present in the following documents:

• Main text
• nihpp-2023.04.28.536249v1.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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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: KRAS: 65A>G; Q22R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KRAS: Q22R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma.

Brain Pathology (Zurich, Switzerland)

Wang, Yujiao Y; Wang, Leiming L; Blümcke, Ingmar I; Zhang, Weiwei W; Fu, Yongjuan Y; Shan, Yongzhi Y; Piao, Yueshan Y; Zhao, Guoguang G

Publication Date: 2021-08-05

Variant appearance in text: KRAS: 65A>G; Q22R

PubMed Link: 34355449

Variant Present in the following documents:

• Main text
• BPA-32-e13011-s002.xlsx, sheet 4
• BPA-32-e13011.pdf

View BVdb publication page

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Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma.

Brain Pathology (Zurich, Switzerland)

Wang, Yujiao Y; Wang, Leiming L; Blümcke, Ingmar I; Zhang, Weiwei W; Fu, Yongjuan Y; Shan, Yongzhi Y; Piao, Yueshan Y; Zhao, Guoguang G

Publication Date: 2022-01

Variant appearance in text: KRAS: 65A>G; Q22R

PubMed Link: 34355449

Variant Present in the following documents:

• Main text
• BPA-32-e13011-s002.xlsx, sheet 4
• BPA-32-e13011.pdf

View BVdb publication page

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Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine

Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ

Publication Date: 2020-10

Variant appearance in text: KRAS: Q22R

PubMed Link: 33001984

Variant Present in the following documents:

• pmed.1003363.s013.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: Q22R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Clinical Genetics

Sudduth, Christopher L CL; McGuire, Anna M AM; Smits, Patrick J PJ; Konczyk, Dennis J DJ; Al-Ibraheemi, Alyaa A; Fishman, Steven J SJ; Greene, Arin K AK

Publication Date: 2020-12

Variant appearance in text: KRAS: Gln22Arg

PubMed Link: 32799314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: KRAS: Q22R

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.

Cancer

Mack, Philip C PC; Banks, Kimberly C KC; Espenschied, Carin R CR; Burich, Rebekah A RA; Zill, Oliver A OA; Lee, Christine E CE; Riess, Jonathan W JW; Mortimer, Stefanie A SA; Talasaz, AmirAli A; Lanman, Richard B RB; Gandara, David R DR

Publication Date: 2020-07-15

Variant appearance in text: KRAS: Q22R

PubMed Link: 32365229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Dunnett-Kane, V V; Burkitt-Wright, E E; Blackhall, F H FH; Malliri, A A; Evans, D G DG; Lindsay, C R CR

Publication Date: 2020-07

Variant appearance in text: KRAS: Q22R

PubMed Link: 32240795

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KRAS: Q22R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 12
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

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Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

Angiogenesis

Goss, Jeremy A JA; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Kozakewich, Harry P W HPW; Alomari, Ahmad I AI; Al-Ibraheemi, Alyaa A; Taghinia, Amir H AH; Dickie, Belinda H BH; Adams, Denise M DM; Fishman, Steven J SJ; Mulliken, John B JB; Warman, Matthew L ML; Greene, Arin K AK

Publication Date: 2019-11

Variant appearance in text: KRAS: Q22R

PubMed Link: 31486960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KRAS: Q22R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.

Journal Of Pediatric Genetics

Rodríguez, Fernando F; Vallejos, Carla C; Bolanos-Garcia, Víctor M VM; Ponce, Diana D; Unanue, Nancy N; Garay, Francisco F; Cassorla, Fernando F; Aracena, Mariana M

Publication Date: 2018-12

Variant appearance in text: KRAS: Q22R

PubMed Link: 30430033

Variant Present in the following documents:

• Main text

View BVdb publication page

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From mutations to mechanisms and dysfunction via computation and mining of protein energy landscapes.

Bmc Genomics

Qiao, Wanli W; Akhter, Nasrin N; Fang, Xiaowen X; Maximova, Tatiana T; Plaku, Erion E; Shehu, Amarda A

Publication Date: 2018-09-24

Variant appearance in text: KRAS: Q22R

PubMed Link: 30255791

Variant Present in the following documents:

• 12864_2018_Article_5024.pdf

View BVdb publication page

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Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

European Journal Of Pediatrics

van Trier, Dorothée C DC; van der Burgt, Ineke I; Draaijer, Renske W RW; Cruysberg, Johannes R M JRM; Noordam, Cees C; Draaisma, Jos M JM

Publication Date: 2018-08

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 29948256

Variant Present in the following documents:

• Main text
• 431_2018_Article_3183.pdf

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KRAS: Q22R

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KRAS: 65A>G; Gln22Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: KRAS: 65A>G

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.

The Korean Journal Of Internal Medicine

Park, Sehhoon S; Kim, Ji-Yeon JY; Lee, Se-Hoon SH; Suh, Beomseok B; Keam, Bhumsuk B; Kim, Tae Min TM; Kim, Dong-Wan DW; Heo, Dae Seog DS

Publication Date: 2017-05

Variant appearance in text: KRAS: Q22R

PubMed Link: 28407465

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proportion and clinical features of never-smokers with non-small cell lung cancer.

Chinese Journal Of Cancer

Cho, Jaeyoung J; Choi, Sun Mi SM; Lee, Jinwoo J; Lee, Chang-Hoon CH; Lee, Sang-Min SM; Kim, Dong-Wan DW; Yim, Jae-Joon JJ; Kim, Young Tae YT; Yoo, Chul-Gyu CG; Kim, Young Whan YW; Han, Sung Koo SK; Park, Young Sik YS

Publication Date: 2017-02-08

Variant appearance in text: KRAS: Gln22Arg

PubMed Link: 28179026

Variant Present in the following documents:

• Main text
• 40880_2017_Article_187.pdf

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: KRAS: Q22R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: KRAS: Q22R

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Medicine

Alakus, Hakan H; Babicky, Michele L ML; Ghosh, Pradipta P; Yost, Shawn S; Jepsen, Kristen K; Dai, Yang Y; Arias, Angelo A; Samuels, Michael L ML; Mose, Evangeline S ES; Schwab, Richard B RB; Peterson, Michael R MR; Lowy, Andrew M AM; Frazer, Kelly A KA; Harismendy, Olivier O

Publication Date: 2014

Variant appearance in text: KRAS: Q22R

PubMed Link: 24944587

Variant Present in the following documents:

• gm559-S3.xls, sheet 12

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: KRAS: Q22R

PubMed Link: 24803665

Variant Present in the following documents:

• Main text
• MSB-10-5-727-s13.xls, sheet 1
• MSB-10-5-727.pdf

View BVdb publication page

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A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Croatian Medical Journal

Nosan, Gregor G; Bertok, Sara S; Vesel, Samo S; Yntema, Helger G HG; Paro-Panjan, Darja D

Publication Date: 2013-12

Variant appearance in text: KRAS: Gln22Arg

PubMed Link: 24382853

Variant Present in the following documents:

• Main text
• CroatMedJ_54_0574.pdf

View BVdb publication page

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Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

Oncology Reports

Timeus, Fabio F; Crescenzio, Nicoletta N; Baldassarre, Giuseppina G; Doria, Alessandra A; Vallero, Stefano S; Foglia, Luiselda L; Pagliano, Sara S; Rossi, Cesare C; Silengo, Margherita Cirillo MC; Ramenghi, Ugo U; Fagioli, Franca F; Cordero di Montezemolo, Luca L; Ferrero, Giovanni Battista GB

Publication Date: 2013-08

Variant appearance in text: KRAS: Gln22Arg

PubMed Link: 23756559

Variant Present in the following documents:

• Main text
• or-30-02-0553.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KRAS: Q22R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Human Mutation

Gremer, Lothar L; Merbitz-Zahradnik, Torsten T; Dvorsky, Radovan R; Cirstea, Ion C IC; Kratz, Christian Peter CP; Zenker, Martin M; Wittinghofer, Alfred A; Ahmadian, Mohammad Reza MR

Publication Date: 2011-01

Variant appearance in text: KRAS: Q22R

PubMed Link: 20949621

Variant Present in the following documents:

• Main text

View BVdb publication page

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An unexpected new role of mutant Ras: perturbation of human embryonic development.

Journal Of Molecular Medicine (Berlin, Germany)

Kratz, Christian P CP; Niemeyer, Charlotte M CM; Zenker, Martin M

Publication Date: 2007-03

Variant appearance in text: KRAS: Q22R

PubMed Link: 17211612

Variant Present in the following documents:

• Main text
• 109_2006_Article_135.pdf

View BVdb publication page

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Journal Of Medical Genetics

Zenker, Martin M; Lehmann, Katarina K; Schulz, Anna Leana AL; Barth, Helmut H; Hansmann, Dagmar D; Koenig, Rainer R; Korinthenberg, Rudolf R; Kreiss-Nachtsheim, Martina M; Meinecke, Peter P; Morlot, Susanne S; Mundlos, Stefan S; Quante, Anne S AS; Raskin, Salmo S; Schnabel, Dirk D; Wehner, Lars-Erik LE; Kratz, Christian P CP; Horn, Denise D; Kutsche, Kerstin K

Publication Date: 2007-02

Variant appearance in text:

PubMed Link: 17056636

Variant Present in the following documents:

• Main text

View BVdb publication page

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