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: G60R

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: 178G>C; Gly60Arg

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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Lymphangiography as a Treatment for Refractory Congenital Chylothorax Due to RASopathies: A Report of Two Cases.

Interventional Radiology (Higashimatsuyama-Shi (Japan)

Kinota, Naoya N; Kodama, Hiroshi H; Moriyama, Taiki T; Taniguchi, Junichi J; Maruyama, Mitsunari M; Ogasawara, Atsushi A; Kako, Yasukazu Y; Kobayashi, Kaoru K; Takaki, Haruyuki H; Shibata, Akio A; Minagawa, Kyoko K; Takeshima, Yasuhiro Y; Yamakado, Koichiro K

Publication Date: 2022-03-01

Variant appearance in text: KRAS: Gly60Arg

PubMed Link: 35911871

Variant Present in the following documents:

• 2432-0935-7-1-0017.pdf

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: KRAS: G60R

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: KRAS: 178G>C; Gly60Arg; rs104894359

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: KRAS: G60R

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: KRAS: 178G>C; G60R

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome Medicine

De La Vega, Francisco M FM; Chowdhury, Shimul S; Moore, Barry B; Frise, Erwin E; McCarthy, Jeanette J; Hernandez, Edgar Javier EJ; Wong, Terence T; James, Kiely K; Guidugli, Lucia L; Agrawal, Pankaj B PB; Genetti, Casie A CA; Brownstein, Catherine A CA; Beggs, Alan H AH; Löscher, Britt-Sabina BS; Franke, Andre A; Boone, Braden B; Levy, Shawn E SE; Õunap, Katrin K; Pajusalu, Sander S; Huentelman, Matt M; Ramsey, Keri K; Naymik, Marcus M; Narayanan, Vinodh V; Veeraraghavan, Narayanan N; Billings, Paul P; Reese, Martin G MG; Yandell, Mark M; Kingsmore, Stephen F SF

Publication Date: 2021-10-14

Variant appearance in text: KRAS: 178G>C; Gly60Arg

PubMed Link: 34645491

Variant Present in the following documents:

• 13073_2021_965_MOESM1_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: G60R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia.

Haematologica

Kaburagi, Taeko T; Yamato, Genki G; Shiba, Norio N; Yoshida, Kenichi K; Hara, Yusuke Y; Tabuchi, Ken K; Shiraishi, Yuichi Y; Ohki, Kentaro K; Sotomatsu, Manabu M; Arakawa, Hirokazu H; Matsuo, Hidemasa H; Shimada, Akira A; Taki, Tomohiko T; Kiyokawa, Nobutaka N; Tomizawa, Daisuke D; Horibe, Keizo K; Miyano, Satoru S; Taga, Takashi T; Adachi, Souichi S; Ogawa, Seishi S; Hayashi, Yasuhide Y

Publication Date: 2022-03-01

Variant appearance in text: KRAS: G60R

PubMed Link: 33730843

Variant Present in the following documents:

• 2020_269431_KABURAGI_SUPPL.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: KRAS: 178G>C; Gly60Arg

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: KRAS: G60R

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

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: G60R

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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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: G60R

PubMed Link: 32240795

Variant Present in the following documents:

• Main text

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: G60R

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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A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

Bmc Gastroenterology

Wang, Na N; Shi, Wen W; Jiao, Yang Y

Publication Date: 2020-02-13

Variant appearance in text: KRAS: 178G>C; Gly60Arg

PubMed Link: 32054441

Variant Present in the following documents:

• Main text
• 12876_2020_Article_1187.pdf

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: 178G>C; Gly60Arg

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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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: KRAS: 178G>C; Gly60Arg

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 2
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: G60R; rs104894359

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

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: 178G>C; Gly60Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Molecular Genetics & Genomic Medicine

Koh, Ai-Ling AL; Tan, Ee-Shien ES; Brett, Maggie S MS; Lai, Angeline H M AHM; Jamuar, Saumya Shekhar SS; Ng, Ivy I; Tan, Ene-Choo EC

Publication Date: 2019-04

Variant appearance in text: KRAS: 178G>C; G60R

PubMed Link: 30784236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Utilization Pattern of Liquid Biopsies (LB) to Detect Actionable Driver Mutations, Guide Treatment Decisions and Monitor Disease Burden During Treatment of 33 Metastatic Colorectal Cancer (mCRC) Patients (pts) at a Fox Chase Cancer Center GI Oncology Subspecialty Clinic.

Frontiers In Oncology

Ghatalia, Pooja P; Smith, Chad H CH; Winer, Arthur A; Gou, Jiangtao J; Kiedrowski, Lesli A LA; Slifker, Michael M; Saltzberg, Patricia D PD; Bubes, Nicole N; Anari, Fern M FM; Kasireddy, Vineela V; Varshavsky, Asya A; Liu, Yang Y; Ross, Eric A EA; El-Deiry, Wafik S WS

Publication Date: 2018

Variant appearance in text: KRAS: G60R

PubMed Link: 30705875

Variant Present in the following documents:

• Main text
• fonc-08-00652.pdf

View BVdb publication page

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Variant information systems for precision oncology.

Bmc Medical Informatics And Decision Making

Starlinger, Johannes J; Pallarz, Steffen S; Ševa, Jurica J; Rieke, Damian D; Sers, Christine C; Keilholz, Ulrich U; Leser, Ulf U

Publication Date: 2018-11-21

Variant appearance in text: rs104894359

PubMed Link: 30463544

Variant Present in the following documents:

• Main text
• 12911_2018_Article_665.pdf

View BVdb publication page

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Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations.

Cancer Cell

Pahuja, Kanika Bajaj KB; Nguyen, Thong T TT; Jaiswal, Bijay S BS; Prabhash, Kumar K; Thaker, Tarjani M TM; Senger, Kate K; Chaudhuri, Subhra S; Kljavin, Noelyn M NM; Antony, Aju A; Phalke, Sameer S; Kumar, Prasanna P; Mravic, Marco M; Stawiski, Eric W EW; Vargas, Derek D; Durinck, Steffen S; Gupta, Ravi R; Khanna-Gupta, Arati A; Trabucco, Sally E SE; Sokol, Ethan S ES; Hartmaier, Ryan J RJ; Singh, Ashish A; Chougule, Anuradha A; Trivedi, Vaishakhi V; Dutt, Amit A; Patil, Vijay V; Joshi, Amit A; Noronha, Vanita V; Ziai, James J; Banavali, Sripad D SD; Ramprasad, Vedam V; DeGrado, William F WF; Bueno, Raphael R; Jura, Natalia N; Seshagiri, Somasekar S

Publication Date: 2018-11-12

Variant appearance in text: KRAS: G60R

PubMed Link: 30449325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.

Scientific Reports

Guo, Fang F; Gong, Hai H; Zhao, Huanhuan H; Chen, Jing J; Zhang, Yiming Y; Zhang, Lihua L; Shi, Xin X; Zhang, Aifeng A; Jin, Hui H; Zhang, Jianqiong J; He, Youji Y

Publication Date: 2018-04-17

Variant appearance in text: KRAS: G60R

PubMed Link: 29666387

Variant Present in the following documents:

• 41598_2018_Article_24306.pdf

View BVdb publication page

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KRAS Alleles: The Devil Is in the Detail.

Trends In Cancer

Haigis, Kevin M KM

Publication Date: 2017-10

Variant appearance in text: KRAS: G60R

PubMed Link: 28958387

Variant Present in the following documents:

• Main text

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: 178G>C; Gly60Arg

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: G60R; rs104894359

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

Plos One

Sana, Maria Elena ME; Quilliam, Lawrence A LA; Spitaleri, Andrea A; Pezzoli, Laura L; Marchetti, Daniela D; Lodrini, Chiara C; Candiago, Elisabetta E; Lincesso, Anna Rita AR; Ferrazzi, Paolo P; Iascone, Maria M

Publication Date: 2016

Variant appearance in text: KRAS: Gly60Arg

PubMed Link: 28002430

Variant Present in the following documents:

• Main text
• pone.0168501.pdf

View BVdb publication page

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The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

European Journal Of Human Genetics : Ejhg

Joyce, Sarah S; Gordon, Kristiana K; Brice, Glen G; Ostergaard, Pia P; Nagaraja, Rani R; Short, John J; Moore, Sandra S; Mortimer, Peter P; Mansour, Sahar S

Publication Date: 2016-05

Variant appearance in text: KRAS: 178G>C; Gly60Arg; rs104894359

PubMed Link: 26242988

Variant Present in the following documents:

• Main text

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: G60R

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: G60R

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

View BVdb publication page

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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Sol-Church, Katia K; Smpokou, Patroula P; Graham, Gail E GE; Stevenson, David A DA; Hanson, Heather H; Viskochil, David H DH; Baker, Laura C LC; Russo, Bridget B; Gardner, Nick N; Stabley, Deborah L DL; Kolbe, Verena V; Rosenberger, Georg G

Publication Date: 2015-09

Variant appearance in text: KRAS: Gly60Arg

PubMed Link: 25914166

Variant Present in the following documents:

• Main text

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: K-Ras4B: G60R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s20.pdf
• MSB-10-5-727-s13.xls, sheet 1

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: Gly60Arg

PubMed Link: 24382853

Variant Present in the following documents:

• Main text
• CroatMedJ_54_0574.pdf

View BVdb publication page

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Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Annals Of The New York Academy Of Sciences

Tartaglia, Marco M; Gelb, Bruce D BD

Publication Date: 2010-12

Variant appearance in text: KRAS: Gly60Arg

PubMed Link: 20958325

Variant Present in the following documents:

• Main text

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: G60R

PubMed Link: 20949621

Variant Present in the following documents:

• Main text

View BVdb publication page

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A restricted spectrum of NRAS mutations causes Noonan syndrome.

Nature Genetics

Cirstea, Ion C IC; Kutsche, Kerstin K; Dvorsky, Radovan R; Gremer, Lothar L; Carta, Claudio C; Horn, Denise D; Roberts, Amy E AE; Lepri, Francesca F; Merbitz-Zahradnik, Torsten T; König, Rainer R; Kratz, Christian P CP; Pantaleoni, Francesca F; Dentici, Maria L ML; Joshi, Victoria A VA; Kucherlapati, Raju S RS; Mazzanti, Laura L; Mundlos, Stefan S; Patton, Michael A MA; Silengo, Margherita Cirillo MC; Rossi, Cesare C; Zampino, Giuseppe G; Digilio, Cristina C; Stuppia, Liborio L; Seemanova, Eva E; Pennacchio, Len A LA; Gelb, Bruce D BD; Dallapiccola, Bruno B; Wittinghofer, Alfred A; Ahmadian, Mohammad R MR; Tartaglia, Marco M; Zenker, Martin M

Publication Date: 2010-01

Variant appearance in text: KRAS: G60R

PubMed Link: 19966803

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: G60R

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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