Publications:

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

Human Genetics

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

Publication Date: 2023-04-22

Variant appearance in text: FGFR3: 1950G>C; Lys650Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Measurement of FGFR3 signaling at the cell membrane via total internal reflection fluorescence microscopy to compare the activation of FGFR3 mutants.

The Journal Of Biological Chemistry

Hartl, Ingrid I; Brumovska, Veronika V; Striedner, Yasmin Y; Yasari, Atena A; Schütz, Gerhard J GJ; Sevcsik, Eva E; Tiemann-Boege, Irene I

Publication Date: 2022-12-26

Variant appearance in text: FGFR3: K650N

PubMed Link: 36581204

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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A multicenter investigator-initiated Phase 2 trial of E7090 in patients with advanced or recurrent solid tumor with fibroblast growth factor receptor (FGFR) gene alteration: FORTUNE trial.

Bmc Cancer

Chiba, Yohei Y; Sudo, Kazuki K; Kojima, Yuki Y; Okuma, Hitomi H; Kohsaka, Shinji S; Machida, Ryunosuke R; Ichimura, Masahiko M; Anjo, Kenta K; Kurishita, Kazumi K; Okita, Natsuko N; Nakamura, Kenichi K; Kinoshita, Ichiro I; Takahashi, Masanobu M; Matsubara, Junichi J; Kusaba, Hitoshi H; Yonemori, Kan K; Takahashi, Masamichi M

Publication Date: 2022-08-09

Variant appearance in text: FGFR3: K650N

PubMed Link: 35945547

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9949.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FGFR3: 1950G>C; Lys650Asn

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Fibroblast growth factor receptor signalling dysregulation and targeting in breast cancer.

Open Biology

Francavilla, Chiara C; O'Brien, Ciara S CS

Publication Date: 2022-02

Variant appearance in text: FGFR3: K650N

PubMed Link: 35193394

Variant Present in the following documents:

• Main text
• rsob.210373.pdf

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: FGFR3: K650N

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.

Npj Precision Oncology

Nakamura, Ikuko Takeda IT; Kohsaka, Shinji S; Ikegami, Masachika M; Ikeuchi, Hiroshi H; Ueno, Toshihide T; Li, Kunhua K; Beyett, Tyler S TS; Koyama, Takafumi T; Shimizu, Toshio T; Yamamoto, Noboru N; Takahashi, Fumiyuki F; Takahashi, Kazuhisa K; Eck, Michael J MJ; Mano, Hiroyuki H

Publication Date: 2021-07-16

Variant appearance in text: FGFR3: K650N

PubMed Link: 34272467

Variant Present in the following documents:

• Main text
• 41698_2021_Article_204.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: FGFR3: 1950G>C; Lys650Asn

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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Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.

Cancer Biology & Medicine

Zhou, Zhen Z; Liu, Zichuan Z; Ou, Qiuxiang Q; Wu, Xue X; Wang, Xiaonan X; Shao, Yang Y; Liu, Hongyan H; Yang, Yu Y

Publication Date: 2021-03-12

Variant appearance in text: FGFR3: K650N

PubMed Link: 33710807

Variant Present in the following documents:

• cbm-18-490-s001.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: FGFR3: 1950G>C; K650N

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: FGFR3: K650N

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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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: rs28928868

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.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: N/A

PubMed Link: 32958805

Variant Present in the following documents:

View BVdb publication page

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The Fibroblast Growth Factor Receptors in Breast Cancer: from Oncogenesis to Better Treatments.

International Journal Of Molecular Sciences

Navid, Sobhani S; Fan, Chunmei C; O Flores-Villanueva, Pedro P; Generali, Daniele D; Li, Yong Y

Publication Date: 2020-03-16

Variant appearance in text: FGFR3: K650N

PubMed Link: 32188012

Variant Present in the following documents:

• Main text
• ijms-21-02011.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: FGFR3: K650N

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FGFR3: 1950G>C; K650N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: FGFR3: 1950G>C; Lys650Asn

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications

Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2019-04-11

Variant appearance in text: FGFR3: 1950G>C; K650N

PubMed Link: 30975989

Variant Present in the following documents:

• 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.

Medicine

Yao, Guixiang G; Wang, Guangxin G; Wang, Dawei D; Su, Guohai G

Publication Date: 2019-01

Variant appearance in text: FGFR3: 1950G>C

PubMed Link: 30681580

Variant Present in the following documents:

• medi-98-e14157.pdf

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: FGFR3: K650N

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine

Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F

Publication Date: 2018-11-15

Variant appearance in text: FGFR3: K650N

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: FGFR3: K650N

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 13
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 2
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 17

View BVdb publication page

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Current Status of Fibroblast Growth Factor Receptor-Targeted Therapies in Breast Cancer.

Cells

Sobhani, Navid N; Ianza, Anna A; D'Angelo, Alberto A; Roviello, Giandomenico G; Giudici, Fabiola F; Bortul, Marina M; Zanconati, Fabrizio F; Bottin, Cristina C; Generali, Daniele D

Publication Date: 2018-07-15

Variant appearance in text: FGFR3: K650N

PubMed Link: 30011957

Variant Present in the following documents:

• Main text
• cells-07-00076.pdf

View BVdb publication page

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A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.

Human Genome Variation

Takahashi, Ikuko I; Kondo, Daiki D; Oyama, Chikako C; Yano, Tamami T; Tamura, Hiroaki H; Noguchi, Atsuko A; Takahashi, Tsutomu T

Publication Date: 2018

Variant appearance in text: FGFR3: K650N

PubMed Link: 29736252

Variant Present in the following documents:

• Main text
• 41439_2018_Article_1.pdf

View BVdb publication page

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Disease Variants of FGFR3 Reveal Molecular Basis for the Recognition and Additional Roles for Cdc37 in Hsp90 Chaperone System.

Structure (London, England : 1993)

Bunney, Tom D TD; Inglis, Alison J AJ; Sanfelice, Domenico D; Farrell, Brendan B; Kerr, Christopher J CJ; Thompson, Gary S GS; Masson, Glenn R GR; Thiyagarajan, Nethaji N; Svergun, Dmitri I DI; Williams, Roger L RL; Breeze, Alexander L AL; Katan, Matilda M

Publication Date: 2018-03-06

Variant appearance in text: FGFR3: K650N

PubMed Link: 29478821

Variant Present in the following documents:

• mmc1.pdf
• mmc3.pdf

View BVdb publication page

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Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Hirai, Hiroki H; Hamada, Junpei J; Hasegawa, Kosei K; Ishii, Eiichi E

Publication Date: 2017

Variant appearance in text: FGFR3: K650N

PubMed Link: 29026271

Variant Present in the following documents:

• Main text
• cpe-26-223.pdf

View BVdb publication page

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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: rs28928868

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Morphologic and molecular study of lung cancers associated with idiopathic pulmonary fibrosis and other pulmonary fibroses.

Respiratory Research

Guyard, Alice A; Danel, Claire C; Théou-Anton, Nathalie N; Debray, Marie-Pierre MP; Gibault, Laure L; Mordant, Pierre P; Castier, Yves Y; Crestani, Bruno B; Zalcman, Gérard G; Blons, Hélène H; Cazes, Aurélie A

Publication Date: 2017-06-15

Variant appearance in text: FGFR3: 1950G>C; Lys650Asn

PubMed Link: 28619094

Variant Present in the following documents:

• Main text
• 12931_2017_Article_605.pdf

View BVdb publication page

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Achondroplasia: Development, pathogenesis, and therapy.

Developmental Dynamics : An Official Publication Of The American Association Of Anatomists

Ornitz, David M DM; Legeai-Mallet, Laurence L

Publication Date: 2017-04

Variant appearance in text: N/A

PubMed Link: 27987249

Variant Present in the following documents:

View BVdb publication page

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Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use.

Oncotarget

Patani, Harshnira H; Bunney, Tom D TD; Thiyagarajan, Nethaji N; Norman, Richard A RA; Ogg, Derek D; Breed, Jason J; Ashford, Paul P; Potterton, Andrew A; Edwards, Mina M; Williams, Sarah V SV; Thomson, Gary S GS; Pang, Camilla S M CS; Knowles, Margaret A MA; Breeze, Alexander L AL; Orengo, Christine C; Phillips, Chris C; Katan, Matilda M

Publication Date: 2016-04-26

Variant appearance in text: FGFR3: K650N

PubMed Link: 26992226

Variant Present in the following documents:

• Main text
• oncotarget-07-24252.pdf

View BVdb publication page

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Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

International Journal Of Clinical And Experimental Medicine

Zhao, Rong R; Ruan, Yan Y; Wang, Xin X

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26770560

Variant Present in the following documents:

View BVdb publication page

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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.

Cancer Metastasis Reviews

Helsten, Teresa T; Schwaederle, Maria M; Kurzrock, Razelle R

Publication Date: 2015-09

Variant appearance in text: N/A

PubMed Link: 26224133

Variant Present in the following documents:

View BVdb publication page

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Fibroblast growth factor signaling in skeletal development and disease.

Genes & Development

Ornitz, David M DM; Marie, Pierre J PJ

Publication Date: 2015-07-15

Variant appearance in text: N/A

PubMed Link: 26220993

Variant Present in the following documents:

View BVdb publication page

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Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Human Molecular Genetics

McDonell, Laura M LM; Kernohan, Kristin D KD; Boycott, Kym M KM; Sawyer, Sarah L SL

Publication Date: 2015-10-15

Variant appearance in text: N/A

PubMed Link: 26152202

Variant Present in the following documents:

View BVdb publication page

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,

Publication Date: 2015-05

Variant appearance in text: FGFR3: Lys650Asn

PubMed Link: 25741868

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Prenatal Diagnosis

Chitty, Lyn S LS; Mason, Sarah S; Barrett, Angela N AN; McKay, Fiona F; Lench, Nicholas N; Daley, Rebecca R; Jenkins, Lucy A LA

Publication Date: 2015-07

Variant appearance in text: FGFR3: 1950G>C

PubMed Link: 25728633

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Case Reports In Endocrinology

Mustafa, Manal M; Moghrabi, Nabil N; Bin-Abbas, Bassam B

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25505998

Variant Present in the following documents:

View BVdb publication page

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Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Mamada, Mitsukazu M; Yorifuji, Tohru T; Kurokawa, Keiji K; Kawai, Masahiko M; Momoi, Toru T; Nakahata, Tatsutoshi T

Publication Date: 2006

Variant appearance in text: FGFR3: Lys650Asn

PubMed Link: 24790322

Variant Present in the following documents:

• Main text
• cpe-15-061.pdf

View BVdb publication page

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Annotating cancer variants and anti-cancer therapeutics in reactome.

Cancers

Milacic, Marija M; Haw, Robin R; Rothfels, Karen K; Wu, Guanming G; Croft, David D; Hermjakob, Henning H; D'Eustachio, Peter P; Stein, Lincoln L

Publication Date: 2012-11-08

Variant appearance in text: FGFR3: K650N

PubMed Link: 24213504

Variant Present in the following documents:

• Main text
• cancers-04-01180.pdf

View BVdb publication page

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Cracking the molecular origin of intrinsic tyrosine kinase activity through analysis of pathogenic gain-of-function mutations.

Cell Reports

Chen, Huaibin H; Huang, Zhifeng Z; Dutta, Kaushik K; Blais, Steven S; Neubert, Thomas A TA; Li, Xiaokun X; Cowburn, David D; Traaseth, Nathaniel J NJ; Mohammadi, Moosa M

Publication Date: 2013-07-25

Variant appearance in text: FGFR3: Lys650Asn

PubMed Link: 23871672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FGFR3: K650N

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Human Molecular Genetics

Shinde, Deepali N DN; Elmer, Dominik P DP; Calabrese, Peter P; Boulanger, Jérôme J; Arnheim, Norman N; Tiemann-Boege, Irene I

Publication Date: 2013-10-15

Variant appearance in text: FGFR3: K650N

PubMed Link: 23740942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).

Clinical And Experimental Reproductive Medicine

Park, Kyung Eui KE; Kim, Sung Ah SA; Kang, Moon Joo MJ; Kim, Hee Sun HS; Cho, Sung Im SI; Yoo, Kyoung Won KW; Kim, So Yeon SY; Lee, Hye Jun HJ; Oh, Sun Kyung SK; Seong, Moon-Woo MW; Ku, Seung-Yup SY; Jun, Jong Kwan JK; Park, Sung Sup SS; Choi, Young Min YM; Moon, Shin Yong SY

Publication Date: 2013-03

Variant appearance in text: FGFR3: K650N

PubMed Link: 23614116

Variant Present in the following documents:

• Main text
• cerm-40-42.pdf

View BVdb publication page

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Genetic architecture of body size in mammals.

Genome Biology

Kemper, Kathryn E KE; Visscher, Peter M PM; Goddard, Michael E ME

Publication Date: 2012

Variant appearance in text: FGFR3: Lys650Asn

PubMed Link: 22546202

Variant Present in the following documents:

• Main text
• gb-2012-13-4-244.pdf

View BVdb publication page

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Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

Plos One

He, Lijuan L; Serrano, Christopher C; Niphadkar, Nitish N; Shobnam, Nadia N; Hristova, Kalina K

Publication Date: 2012

Variant appearance in text: FGFR3: K650N

PubMed Link: 22529939

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeting mutant fibroblast growth factor receptors in cancer.

Trends In Molecular Medicine

Greulich, Heidi H; Pollock, Pamela M PM

Publication Date: 2011-05

Variant appearance in text: FGFR3: K650N

PubMed Link: 21367659

Variant Present in the following documents:

• Main text

View BVdb publication page

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Nature Genetics

Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO

Publication Date: 2009-11

Variant appearance in text: FGFR3: K650N

PubMed Link: 19855393

Variant Present in the following documents:

• Main text
• ukmss-27834.pdf
• NIHMS27834-supplement-3.xls, sheet 1
• NIHMS27834-supplement-1.pdf

View BVdb publication page

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