Publications:

---

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: HRAS: G12A

PubMed Link: 37207265

Variant Present in the following documents:

• nihpp-2023.04.28.536249v1.pdf

View BVdb publication page

---

Syndromic forms of congenital hyperinsulinism.

Frontiers In Endocrinology

Zenker, Martin M; Mohnike, Klaus K; Palm, Katja K

Publication Date: 2023

Variant appearance in text: HRAS: G12A

PubMed Link: 37065762

Variant Present in the following documents:

• Table_1.xlsx, sheet 5

View BVdb publication page

---

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: HRAS: 35G>C; Gly12Ala; rs104894230

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

---

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Scientific Reports

Wu, Teng-Hui TH; Peng, Jing J; Yang, Li L; Chen, Yan-Hui YH; Lu, Xiu-Lan XL; Huang, Jiao-Tian JT; You, Jie-Yu JY; Ou-Yang, Wen-Xian WX; Sun, Yue-Yu YY; Xue, Yi-Nan YN; Mao, Xiao X; Yan, Hui-Ming HM; Ren, Rong-Na RN; Xie, Jing J; Chen, Zhi-Heng ZH; Zhang, Victor-Wei VW; Lyu, Gui-Zhen GZ; He, Fang F

Publication Date: 2023-03-14

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 36918699

Variant Present in the following documents:

• 41598_2023_31134_MOESM1_ESM.pdf

View BVdb publication page

---

BdLT-Seq as a barcode decay-based method to unravel lineage-linked transcriptome plasticity.

Nature Communications

Shlyakhtina, Yelyzaveta Y; Bloechl, Bianca B; Portal, Maximiliano M MM

Publication Date: 2023-02-25

Variant appearance in text: HRAS: G12A

PubMed Link: 36841849

Variant Present in the following documents:

• 41467_2023_36744_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

---

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: HRAS: 35G>C; Gly12Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: HRAS: G12A

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

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: HRAS: 35G>C; Gly12Ala

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

The mutational landscape of cancer's vulnerability to ionizing radiation.

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

Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME

Publication Date: 2022-10-12

Variant appearance in text: HRAS: G12A

PubMed Link: 36222846

Variant Present in the following documents:

• ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
• ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1

View BVdb publication page

---

Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications

Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S

Publication Date: 2022-10-10

Variant appearance in text: rs104894230

PubMed Link: 36216793

Variant Present in the following documents:

• 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

---

Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.

Frontiers In Endocrinology

Stagi, Stefano S; Ferrari, Vittorio V; Ferrari, Marta M; Priolo, Manuela M; Tartaglia, Marco M

Publication Date: 2022

Variant appearance in text: HRAS: Gly12Ala

PubMed Link: 36060964

Variant Present in the following documents:

• Main text
• fendo-13-951331.pdf

View BVdb publication page

---

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: HRAS: 35G>C; G12A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs104894230

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.

Ultrasound In Obstetrics & Gynecology : The Official Journal Of The International Society Of Ultrasound In Obstetrics And Gynecology

Westenius, E E; Sahlin, E E; Conner, P P; Lindstrand, A A; Iwarsson, E E

Publication Date: 2022-10

Variant appearance in text: HRAS: Gly12Ala

PubMed Link: 35397126

Variant Present in the following documents:

• Main text
• UOG-60-487.pdf

View BVdb publication page

---

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.

Current Oncology Reports

Toss, Angela A; Quarello, Paola P; Mascarin, Maurizio M; Banna, Giuseppe Luigi GL; Zecca, Marco M; Cinieri, Saverio S; Peccatori, Fedro Alessandro FA; Ferrari, Andrea A

Publication Date: 2022-07

Variant appearance in text: HRAS: G12A

PubMed Link: 35320498

Variant Present in the following documents:

• Main text
• 11912_2022_Article_1213.pdf

View BVdb publication page

---

A New Epitope Selection Method: Application to Design a Multi-Valent Epitope Vaccine Targeting HRAS Oncogene in Squamous Cell Carcinoma.

Vaccines

Savsani, Kush K; Jabbour, Gabriel G; Dakshanamurthy, Sivanesan S

Publication Date: 2021-12-31

Variant appearance in text: HRAS: G12A

PubMed Link: 35062725

Variant Present in the following documents:

• Main text
• vaccines-10-00063.pdf

View BVdb publication page

---

A New Epitope Selection Method: Application to Design a Multi-Valent Epitope Vaccine Targeting HRAS Oncogene in Squamous Cell Carcinoma.

Vaccines

Savsani, Kush K; Jabbour, Gabriel G; Dakshanamurthy, Sivanesan S

Publication Date: 2021-12-31

Variant appearance in text: HRAS: G12A

PubMed Link: 35062725

Variant Present in the following documents:

• Main text
• vaccines-10-00063.pdf

View BVdb publication page

---

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: HRAS: G12A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model.

Disease Models & Mechanisms

Tidyman, William E WE; Goodwin, Alice F AF; Maeda, Yoshiko Y; Klein, Ophir D OD; Rauen, Katherine A KA

Publication Date: 2022-02-01

Variant appearance in text: HRAS: G12A

PubMed Link: 34553752

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: HRAS: G12A

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

RASopathies: From germline mutations to somatic and multigenic diseases.

Biomedical Journal

Riller, Quentin Q; Rieux-Laucat, Frédéric F

Publication Date: 2021-08

Variant appearance in text: HRAS: G12A

PubMed Link: 34175492

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.

Technology In Cancer Research & Treatment

Sanders, Brooke E BE; Ku, Lisa L; Walker, Paul P; Bitler, Benjamin G BG

Publication Date: 2021

Variant appearance in text: HRAS: G12A

PubMed Link: 34169762

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Host pharmacogenetic factors that may affect liver neoplasm incidence upon using direct-acting antivirals for treating hepatitis C infection.

Heliyon

Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Hashem, Medhat H MH; Mahmoud, Amal A; Hemeida, Alaa A AA

Publication Date: 2021-05

Variant appearance in text: rs104894230

PubMed Link: 34013078

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Anterior lenticular opacities in Costello Syndrome.

American Journal Of Ophthalmology Case Reports

Thakur, Anchal A; Thakur, Vishal V; Choudhary, Tripti T; Mahajan, Rahul R; Kulshrestha, Ashish A; Gupta, Amit A

Publication Date: 2021-06

Variant appearance in text: HRAS: G12A

PubMed Link: 33981911

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Selective and noncovalent targeting of RAS mutants for inhibition and degradation.

Nature Communications

Teng, Kai Wen KW; Tsai, Steven T ST; Hattori, Takamitsu T; Fedele, Carmine C; Koide, Akiko A; Yang, Chao C; Hou, Xuben X; Zhang, Yingkai Y; Neel, Benjamin G BG; O'Bryan, John P JP; Koide, Shohei S

Publication Date: 2021-05-11

Variant appearance in text: HRAS: G12A

PubMed Link: 33976200

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: HRAS: G12A

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: HRAS: G12A; rs104894230

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

---

Application of CRISPR-Cas9 gene editing for congenital heart disease.

Clinical And Experimental Pediatrics

Seok, Heeyoung H; Deng, Rui R; Cowan, Douglas B DB; Wang, Da-Zhi DZ

Publication Date: 2021-06

Variant appearance in text: HRAS: 35G>C

PubMed Link: 33677855

Variant Present in the following documents:

• Main text
• cep-2020-02096.pdf

View BVdb publication page

---

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: HRAS: G12A

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

---

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet Journal Of Rare Diseases

Leoni, Chiara C; Romeo, Domenico Marco DM; Pelliccioni, Michele M; Di Già, Mariangela M; Onesimo, Roberta R; Giorgio, Valentina V; Flex, Elisabetta E; Tedesco, Marta M; Tartaglia, Marco M; Rigante, Donato D; Valassina, Antonio A; Zampino, Giuseppe G

Publication Date: 2021-01-22

Variant appearance in text: HRAS: Gly12Ala

PubMed Link: 33482860

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1674.pdf

View BVdb publication page

---

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Molecular Syndromology

Vuralli, Dogus D; Kosukcu, Can C; Taskiran, Ekim E; Simsek-Kiper, Pelin Ozlem PO; Utine, Gulen Eda GE; Boduroglu, Koray K; Alikasifoglu, Ayfer A; Alikasifoglu, Mehmet M

Publication Date: 2020-11

Variant appearance in text: HRAS: 35G>C

PubMed Link: 33224014

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Mena, Rafael R; Mendoza, Esperanza E; Gomez Peña, Maria M; Valencia, C Alexander CA; Ullah, Ehsan E; Hufnagel, Robert B RB; Prada, Carlos E CE

Publication Date: 2020-12

Variant appearance in text: HRAS: 35G>C; Gly12Ala

PubMed Link: 33219631

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs104894230

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: HRAS: G12A

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Cancer Science

Hayashi, Hideyuki H; Tanishima, Shigeki S; Fujii, Kyoko K; Mori, Ryo R; Okada, Chihiro C; Yanagita, Emmy E; Shibata, Yuka Y; Matsuoka, Ryosuke R; Amano, Toraji T; Yamada, Takahiro T; Yabe, Ichiro I; Kinoshita, Ichiro I; Komatsu, Yoshito Y; Dosaka-Akita, Hirotoshi H; Nishihara, Hiroshi H

Publication Date: 2020-10

Variant appearance in text: HRAS: 35G>C; G12A; rs104894230

PubMed Link: 32772458

Variant Present in the following documents:

• CAS-111-3926-s001.xlsx, sheet 5

View BVdb publication page

---

Recent advances of automated methods for searching and extracting genomic variant information from biomedical literature.

Briefings In Bioinformatics

Lee, Kyubum K; Wei, Chih-Hsuan CH; Lu, Zhiyong Z

Publication Date: 2021-05-20

Variant appearance in text: rs104894230

PubMed Link: 32770181

Variant Present in the following documents:

• Main text
• bbaa142.pdf

View BVdb publication page

---

The effects of mutant Ras proteins on the cell signalome.

Cancer Metastasis Reviews

Takács, Tamás T; Kudlik, Gyöngyi G; Kurilla, Anita A; Szeder, Bálint B; Buday, László L; Vas, Virag V

Publication Date: 2020-12

Variant appearance in text: HRAS: G12A

PubMed Link: 32648136

Variant Present in the following documents:

• Main text

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: HRAS: G12A

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

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: HRAS: G12A

PubMed Link: 32240795

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: HRAS: G12A

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

RAS pathway influences the number of melanocytic nevi in cardiofaciocutaneous and Costello syndromes.

Journal Of The American Academy Of Dermatology

Kiuru, Maija M; Urban, Jennifer J; Zhu, Guannan G; Rybak, Iryna I; Terrell, Jessica R JR; Qi, Lihong L; McPherson, John D JD; Marghoob, Ashfaq A AA; Rauen, Katherine A KA

Publication Date: 2020-05

Variant appearance in text: HRAS: G12A

PubMed Link: 32001297

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.

Cancers

Froyen, Guy G; Le Mercier, Marie M; Lierman, Els E; Vandepoele, Karl K; Nollet, Friedel F; Boone, Elke E; Van der Meulen, Joni J; Jacobs, Koen K; Lambin, Suzan S; Vander Borght, Sara S; Van Valckenborgh, Els E; Antoniou, Aline A; Hébrant, Aline A

Publication Date: 2019-12-16

Variant appearance in text: HRAS: G12A

PubMed Link: 31888289

Variant Present in the following documents:

• cancers-11-02030.pdf

View BVdb publication page

---

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: HRAS: Gly12Ala

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

---

Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Urban, J J; Qi, L L; Zhao, H H; Rybak, I I; Rauen, K A KA; Kiuru, M M

Publication Date: 2020-03

Variant appearance in text: HRAS: G12A

PubMed Link: 31736117

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: HRAS: G12A

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Morse, Lindsey A LA; Axelrad, Marni M; Chatfield, Kathryn C KC; Chidekel, Aaron A; Dobyns, William W; Doyle, Daniel D; Kerr, Bronwyn B; Lin, Angela E AE; Schwartz, David D DD; Sibbles, Barbara J BJ; Siegel, Dawn D; Shankar, Suma P SP; Stevenson, David A DA; Thacker, Mihir M MM; Weaver, K Nicole KN; White, Sue M SM; Rauen, Katherine A KA

Publication Date: 2019-09

Variant appearance in text: HRAS: G12A

PubMed Link: 31222966

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Glycyrrhetinic acid binds to the conserved P-loop region and interferes with the interaction of RAS-effector proteins.

Acta Pharmaceutica Sinica. B

Zhang, Yuan Y; Wang, Zhihua Z; Ma, Xiaoyao X; Yang, Shengnan S; Hu, Xueyan X; Tao, Jin J; Hou, Yuanyuan Y; Bai, Gang G

Publication Date: 2019-03

Variant appearance in text: HRAS: G12A

PubMed Link: 30976491

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

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: HRAS: 35G>C; Gly12Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: HRAS: G12A

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

---

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: HRAS: 35G>C

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: HRAS: G12A

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

---

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: HRAS: G12A

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

---

Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology

Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M

Publication Date: 2018-06-01

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 29659903

Variant Present in the following documents:

• hyy052supplementaltable1ionver1.xls, sheet 1

View BVdb publication page

---

Predictive and Prognostic Implications of Mutation Profiling and Microsatellite Instability Status in Patients with Metastatic Colorectal Carcinoma.

Gastroenterology Research And Practice

Liu, Jianhua J; Zeng, Weiqiang W; Huang, Chengzhi C; Wang, Junjiang J; Yang, Dongyang D; Ma, Dong D

Publication Date: 2018

Variant appearance in text: HRAS: G12A

PubMed Link: 29643917

Variant Present in the following documents:

• GRP2018-4585802.pdf

View BVdb publication page

---

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: HRAS: Gly12Ala

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1
• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page

---

The Complexity of Pediatric Multifocal Atrial Tachycardia and Its Prognostic Factors.

Korean Circulation Journal

Baek, Seung Min SM; Chung, Hyun H; Song, Mi Kyoung MK; Bae, Eun Jung EJ; Kim, Gi Beom GB; Noh, Chung Il CI

Publication Date: 2018-02

Variant appearance in text: HRAS: Gly12Ala

PubMed Link: 29441747

Variant Present in the following documents:

• Main text
• kcj-48-148.pdf

View BVdb publication page

---

NetSig: network-based discovery from cancer genomes.

Nature Methods

Horn, Heiko H; Lawrence, Michael S MS; Chouinard, Candace R CR; Shrestha, Yashaswi Y; Hu, Jessica Xin JX; Worstell, Elizabeth E; Shea, Emily E; Ilic, Nina N; Kim, Eejung E; Kamburov, Atanas A; Kashani, Alireza A; Hahn, William C WC; Campbell, Joshua D JD; Boehm, Jesse S JS; Getz, Gad G; Lage, Kasper K

Publication Date: 2018-01

Variant appearance in text: HRAS: G12A

PubMed Link: 29200198

Variant Present in the following documents:

• NIHMS918089-supplement-ST5.xlsx, sheet 1

View BVdb publication page

---

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology

Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH

Publication Date: 2018-02

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 29161613

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: HRAS: 35G>C; G12A

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs104894230

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: HRAS: 35G>C; Gly12Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---