Publications:

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FGF signaling in cranial suture development and related diseases.

Frontiers In Cell And Developmental Biology

Zhao, Xiaolei X; Erhardt, Shannon S; Sung, Kihan K; Wang, Jun J

Publication Date: 2023

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 37325554

Variant Present in the following documents:

• Main text
• fcell-11-1112890.pdf

View BVdb publication page

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Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.

Frontiers In Genetics

Chirteș, Camelia C; Bogliș, Alina A; Toth, Andrea A; Rac, Corina C; Bănescu, Claudia C

Publication Date: 2023

Variant appearance in text: FGFR3: 749C>G

PubMed Link: 37180977

Variant Present in the following documents:

• Main text
• fgene-14-1179163.pdf

View BVdb publication page

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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: 749C>G; Pro250Arg

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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Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Jama Network Open

Huang, Zhongwen Z; Xiao, Feifan F; Xiao, Hui H; Lu, Yulan Y; Yang, Lin L; Zhuang, Deyi D; Chen, Liping L; Wei, Qiufen Q; Jiang, Yinmo Y; Li, Gang G; Wu, Bingbing B; Liu, Zhiwei Z; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2023-04-03

Variant appearance in text: FGFR3: 749C>G; P250R

PubMed Link: 37014641

Variant Present in the following documents:

• jamanetwopen-e236537-s001.pdf

View BVdb publication page

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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics

Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U

Publication Date: 2023-04-03

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 37010288

Variant Present in the following documents:

• supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5

View BVdb publication page

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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: FGFR3: 749C>G; P250R; rs4647924

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version.

The Journal Of Craniofacial Surgery

Faasse, Mariët M; Mathijssen, Irene M J IMJ; ,

Publication Date: 2022-12-06

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 36472893

Variant Present in the following documents:

• Main text
• scs-34-418.pdf

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: FGFR3: 749C>G; P250R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Advances in Understanding the Pathogenesis of Craniofacial Birth Defects.

Journal Of Developmental Biology

Tavares, Andre L P ALP; Moody, Sally A SA

Publication Date: 2022-07-01

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 35893122

Variant Present in the following documents:

• Main text
• jdb-10-00027.pdf

View BVdb publication page

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Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Bmc Medical Genomics

Xiang, Jiale J; Jin, Yuan Y; Song, Nana N; Chen, Sen S; Shen, Jiankun J; Xie, Wen W; Sun, Xiangzhong X; Peng, Zhiyu Z; Sun, Yu Y

Publication Date: 2022-06-27

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 35761346

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1293.pdf
• 12920_2022_1293_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Frontiers In Molecular Biosciences

Bukowska-Olech, Ewelina E; Sowińska-Seidler, Anna A; Larysz, Dawid D; Gawliński, Paweł P; Koczyk, Grzegorz G; Popiel, Delfina D; Gurba-Bryśkiewicz, Lidia L; Materna-Kiryluk, Anna A; Adamek, Zuzanna Z; Szczepankiewicz, Aleksandra A; Dominiak, Paweł P; Glista, Filip F; Matuszewska, Karolina K; Jamsheer, Aleksander A

Publication Date: 2022

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 35591945

Variant Present in the following documents:

• Main text
• fmolb-09-865494.pdf

View BVdb publication page

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The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.

Disease Models & Mechanisms

Stanton, Eloise E; Urata, Mark M; Chen, Jian-Fu JF; Chai, Yang Y

Publication Date: 2022-04-01

Variant appearance in text: FGFR3: P250R

PubMed Link: 35451466

Variant Present in the following documents:

• Main text

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: 749C>G; Pro250Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Bone Reports

Ea, Caroline C; Hennocq, Quentin Q; Picard, Arnaud A; Polak, Michel M; Collet, Corinne C; Legeai-Mallet, Laurence L; Arnaud, Éric É; Paternoster, Giovanna G; Khonsari, Roman Hossein RH

Publication Date: 2022-06

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 35372644

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.

Genome Research

Salazar, Renato R; Arbeithuber, Barbara B; Ivankovic, Maja M; Heinzl, Monika M; Moura, Sofia S; Hartl, Ingrid I; Mair, Theresa T; Lahnsteiner, Angelika A; Ebner, Thomas T; Shebl, Omar O; Pröll, Johannes J; Tiemann-Boege, Irene I

Publication Date: 2022-03

Variant appearance in text: FGFR3: 749C>G; rs4647924

PubMed Link: 35210354

Variant Present in the following documents:

• Main text
• supp_gr.275695.121_Supplemental_Table_S1.xlsx, sheet 1
• supp_gr.275695.121_Supplemental_Methods_and_Figures.pdf
• 499.pdf

View BVdb publication page

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Gangliosides as Biomarkers of Human Brain Diseases: Trends in Discovery and Characterization by High-Performance Mass Spectrometry.

International Journal Of Molecular Sciences

Sarbu, Mirela M; Ica, Raluca R; Zamfir, Alina D AD

Publication Date: 2022-01-08

Variant appearance in text: FGFR3: P250R

PubMed Link: 35054879

Variant Present in the following documents:

• Main text
• ijms-23-00693.pdf

View BVdb publication page

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Gangliosides as Biomarkers of Human Brain Diseases: Trends in Discovery and Characterization by High-Performance Mass Spectrometry.

International Journal Of Molecular Sciences

Sarbu, Mirela M; Ica, Raluca R; Zamfir, Alina D AD

Publication Date: 2022-01-08

Variant appearance in text: FGFR3: P250R

PubMed Link: 35054879

Variant Present in the following documents:

• Main text
• ijms-23-00693.pdf

View BVdb publication page

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Facial Suture Pathology in Syndromic Craniosynostosis: Human and Animal Studies.

Annals Of Plastic Surgery

Wang, Maxwell M MM; Haveles, Christos S CS; Zukotynski, Brian K BK; Reid, Russell R RR; Lee, Justine C JC

Publication Date: 2021-11-01

Variant appearance in text: FGFR3: P250R

PubMed Link: 34699435

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.

Journal Of Developmental Biology

Kidwai, Fahad K FK; Mui, Byron W H BWH; Almpani, Konstantinia K; Jani, Priyam P; Keyvanfar, Cyrus C; Iqbal, Kulsum K; Paravastu, Sriram S SS; Arora, Deepika D; Orzechowski, Pamela P; Merling, Randall K RK; Mallon, Barbara B; Myneni, Vamsee D VD; Ahmad, Moaz M; Kruszka, Paul P; Muenke, Maximilian M; Woodcock, Jeremiah J; Gilman, Jeffrey W JW; Robey, Pamela G PG; Lee, Janice S JS

Publication Date: 2021-09-22

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 34698187

Variant Present in the following documents:

• Main text
• jdb-09-00039.pdf

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: FGFR3: 749C>G; Pro250Arg

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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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Brain Sciences

Valentino, Floriana F; Bruno, Lucia Pia LP; Doddato, Gabriella G; Giliberti, Annarita A; Tita, Rossella R; Resciniti, Sara S; Fallerini, Chiara C; Bruttini, Mirella M; Lo Rizzo, Caterina C; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Pinto, Anna Maria AM; Fava, Francesca F; Baldassarri, Margherita M; Fabbiani, Alessandra A; Lamacchia, Vittoria V; Benetti, Elisa E; Zguro, Kristina K; Furini, Simone S; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2021-07-16

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 34356170

Variant Present in the following documents:

• Main text
• brainsci-11-00936.pdf

View BVdb publication page

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Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis.

Scientific Reports

Lee, Byung Joo BJ; Lee, Kihwang K; Chung, Seung Ah SA; Lim, Hyun Taek HT

Publication Date: 2021-03-17

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 33731768

Variant Present in the following documents:

• Main text
• 41598_2021_Article_85620.pdf

View BVdb publication page

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Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies.

Journal Of Oral Biology And Craniofacial Research

Abdelhamid, Kenzy K; Konci, Rea R; ElHawary, Hassan H; Gorgy, Andrew A; Smith, Lee L

Publication Date: 2021

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 33376670

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

European Journal Of Human Genetics : Ejhg

Tønne, Elin E; Due-Tønnessen, Bernt Johan BJ; Mero, Inger-Lise IL; Wiig, Ulrikke Straume US; Kulseth, Mari Ann MA; Vigeland, Magnus Dehli MD; Sheng, Ying Y; von der Lippe, Charlotte C; Tveten, Kristian K; Meling, Torstein Ragnar TR; Helseth, Eirik E; Heimdal, Ketil Riddervold KR

Publication Date: 2021-06

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 33288889

Variant Present in the following documents:

• 41431_2020_788_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

European Journal Of Human Genetics : Ejhg

Tønne, Elin E; Due-Tønnessen, Bernt Johan BJ; Mero, Inger-Lise IL; Wiig, Ulrikke Straume US; Kulseth, Mari Ann MA; Vigeland, Magnus Dehli MD; Sheng, Ying Y; von der Lippe, Charlotte C; Tveten, Kristian K; Meling, Torstein Ragnar TR; Helseth, Eirik E; Heimdal, Ketil Riddervold KR

Publication Date: 2021-06

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 33288889

Variant Present in the following documents:

• 41431_2020_788_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Updated Guideline on Treatment and Management of Craniosynostosis.

The Journal Of Craniofacial Surgery

Mathijssen, Irene M J IMJ; ,

Publication Date: 2021

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 33156164

Variant Present in the following documents:

• Main text
• jcrsu-32-371.pdf

View BVdb publication page

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

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

Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,

Publication Date: 2021-03

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 33149276

Variant Present in the following documents:

• 41436_2020_1021_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.

Developmental Medicine And Child Neurology

Den Ottelander, Bianca K BK; Van Veelen, Marie-Lise C MC; De Goederen, Robbin R; Van De Beeten, Stephanie Dc SD; Dremmen, Marjolein Hg MH; Loudon, Sjoukje E SE; Versnel, Sarah L SL; Van Den Ouweland, Ans Mw AM; Van Dooren, Marieke F MF; Joosten, Koen Fm KF; Mathijssen, Irene Mj IM

Publication Date: 2021-01

Variant appearance in text: FGFR3: P250R

PubMed Link: 32909287

Variant Present in the following documents:

• Main text
• DMCN-63-104.pdf

View BVdb publication page

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FGF/FGFR signaling in health and disease.

Signal Transduction And Targeted Therapy

Xie, Yangli Y; Su, Nan N; Yang, Jing J; Tan, Qiaoyan Q; Huang, Shuo S; Jin, Min M; Ni, Zhenhong Z; Zhang, Bin B; Zhang, Dali D; Luo, Fengtao F; Chen, Hangang H; Sun, Xianding X; Feng, Jian Q JQ; Qi, Huabing H; Chen, Lin L

Publication Date: 2020-09-02

Variant appearance in text: FGFR3: P250R

PubMed Link: 32879300

Variant Present in the following documents:

• Main text
• 41392_2020_Article_222.pdf

View BVdb publication page

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Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.

Molecular Genetics & Genomic Medicine

Ibarra-Arce, Aurora A; Almaraz-Salinas, Manuel M; Martínez-Rosas, Víctor V; Ortiz de Zárate-Alarcón, Gabriela G; Flores-Peña, Laura L; Romero-Valdovinos, Mirza M; Olivo-Díaz, Angélica A

Publication Date: 2020-08

Variant appearance in text: FGFR3: 749C>G; P250R; rs4647924

PubMed Link: 32510873

Variant Present in the following documents:

• Main text
• MGG3-8-e1266.pdf

View BVdb publication page

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Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.

Stem Cell Research

Mui, Byron W H BWH; Arora, Deepika D; Mallon, Barbara S BS; Martinez, Ariel F AF; Lee, Janice S JS; Muenke, Maximilian M; Kruszka, Paul P; Kidwai, Fahad K FK; Robey, Pamela G PG

Publication Date: 2020-07

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 32505898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utility of clinical exome sequencing in a complex Emirati pediatric cohort.

Computational And Structural Biotechnology Journal

Mahfouz, Nour Abu NA; Kizhakkedath, Praseetha P; Ibrahim, Alia A; El Naofal, Maha M; Ramaswamy, Sathishkumar S; Harilal, Divinlal D; Qutub, Yasmeen Y; Uddin, Mohammed M; Taylor, Alan A; Alloub, Zeinab Z; AlBanna, Ammar A; Abuhammour, Walid W; Fathalla, Basil B; Tayoun, Ahmad Abou AA

Publication Date: 2020

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 32382396

Variant Present in the following documents:

• mmc1.xlsx, sheet 1
• main.pdf

View BVdb publication page

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The duality of human oncoproteins: drivers of cancer and congenital disorders.

Nature Reviews. Cancer

Castel, Pau P; Rauen, Katherine A KA; McCormick, Frank F

Publication Date: 2020-07

Variant appearance in text: FGFR3: P250R

PubMed Link: 32341551

Variant Present in the following documents:

• Main text

View BVdb publication page

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The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine

Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2020-02-17

Variant appearance in text: FGFR3: P250R

PubMed Link: 32066498

Variant Present in the following documents:

• Main text
• 13073_2020_Article_714.pdf

View BVdb publication page

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Combining lexical and context features for automatic ontology extension.

Journal Of Biomedical Semantics

Althubaiti, Sara S; Kafkas, Şenay Ş; Abdelhakim, Marwa M; Hoehndorf, Robert R

Publication Date: 2020-01-13

Variant appearance in text: FGFR3: P250R

PubMed Link: 31931870

Variant Present in the following documents:

• 13326_2019_218_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Cakici, Julie A JA; Clark, Michelle M MM; Gaughran, Mary M; Feddock, Michele M; Batalov, Sergey S; Bainbridge, Matthew N MN; Carroll, Jeanne J; Caylor, Sara A SA; Clarke, Christina C; Ding, Yan Y; Ellsworth, Katarzyna K; Farnaes, Lauge L; Hildreth, Amber A; Hobbs, Charlotte C; James, Kiely K; Kint, Cyrielle I CI; Lenberg, Jerica J; Nahas, Shareef S; Prince, Lance L; Reyes, Iris I; Salz, Lisa L; Sanford, Erica E; Schols, Peter P; Sweeney, Nathaly N; Tokita, Mari M; Veeraraghavan, Narayanan N; Watkins, Kelly K; Wigby, Kristen K; Wong, Terence T; Chowdhury, Shimul S; Wright, Meredith S MS; Dimmock, David D; ,

Publication Date: 2019-10-03

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 31564432

Variant Present in the following documents:

• Main text

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: 749C>G; Pro250Arg

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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PEDIA: prioritization of exome data by image analysis.

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

Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM

Publication Date: 2019-12

Variant appearance in text: FGFR3: 749C>G

PubMed Link: 31164752

Variant Present in the following documents:

• 41436_2019_566_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Muenke syndrome: Medical and surgical comorbidities and long-term management.

American Journal Of Medical Genetics. Part A

Murali, Chaya N CN; McDonald-McGinn, Donna M DM; Wenger, Tara Lynn TL; McDougall, Carey C; Stroup, Bridget M BM; Sheppard, Sarah E SE; Taylor, Jesse J; Bartlett, Scott P SP; Bhoj, Elizabeth J EJ; Zackai, Elaine H EH; Santani, Avni A

Publication Date: 2019-08

Variant appearance in text: FGFR3: 749C>G; P250R

PubMed Link: 31111620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cell Mechanics of Craniosynostosis.

Acs Biomaterials Science & Engineering

Al-Rekabi, Zeinab Z; Cunningham, Michael L ML; Sniadecki, Nathan J NJ

Publication Date: 2017-11-13

Variant appearance in text: FGFR3: P250R

PubMed Link: 31106260

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

Molecular Genetics & Genomic Medicine

Rymer, Karen K; Shiang, Rita R; Hsiung, Anting A; Pandya, Arti A; Bigdeli, Tim T; Webb, Bradley T BT; Rhodes, Jennifer J

Publication Date: 2019-06

Variant appearance in text: FGFR3: 749C>G; Pro250Arg; rs4647924

PubMed Link: 31016899

Variant Present in the following documents:

• Main text
• MGG3-7-e656.pdf

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Pathogenic Variants in GPC4 Cause Keipert Syndrome.

American Journal Of Human Genetics

Amor, David J DJ; Stephenson, Sarah E M SEM; Mustapha, Mirna M; Mensah, Martin A MA; Ockeloen, Charlotte W CW; Lee, Wei Shern WS; Tankard, Rick M RM; Phelan, Dean G DG; Shinawi, Marwan M; de Brouwer, Arjan P M APM; Pfundt, Rolph R; Dowling, Cari C; Toler, Tomi L TL; Sutton, V Reid VR; Agolini, Emanuele E; Rinelli, Martina M; Capolino, Rossella R; Martinelli, Diego D; Zampino, Giuseppe G; Dumić, Miroslav M; Reardon, William W; Shaw-Smith, Charles C; Leventer, Richard J RJ; Delatycki, Martin B MB; Kleefstra, Tjitske T; Mundlos, Stefan S; Mortier, Geert G; Bahlo, Melanie M; Allen, Nicola J NJ; Lockhart, Paul J PJ

Publication Date: 2019-05-02

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 30982611

Variant Present in the following documents:

• Main text

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Current Approaches in the Development of Molecular and Pharmacological Therapies in Craniosynostosis Utilizing Animal Models.

Molecular Syndromology

Rachwalski, Martin M; Khonsari, Roman H RH; Paternoster, Giovanna G

Publication Date: 2019-02

Variant appearance in text: FGFR3: P250R

PubMed Link: 30976284

Variant Present in the following documents:

• Main text

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Syndromic Craniosynostosis: Complexities of Clinical Care.

Molecular Syndromology

O'Hara, Justine J; Ruggiero, Federica F; Wilson, Louise L; James, Greg G; Glass, Graeme G; Jeelani, Owase O; Ong, Juling J; Bowman, Richard R; Wyatt, Michelle M; Evans, Robert R; Samuels, Martin M; Hayward, Richard R; Dunaway, David J DJ

Publication Date: 2019-02

Variant appearance in text: FGFR3: 749C>G; Pro250Arg

PubMed Link: 30976282

Variant Present in the following documents:

• Main text

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Structural Genome Variations Related to Craniosynostosis.

Molecular Syndromology

Poot, Martin M

Publication Date: 2019-02

Variant appearance in text: FGFR3: P250R

PubMed Link: 30976277

Variant Present in the following documents:

• Main text

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Genetic Causes of Craniosynostosis: An Update.

Molecular Syndromology

Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ

Publication Date: 2019-02

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 30976276

Variant Present in the following documents:

• Main text

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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: FGFR3: 749C>G; Pro250Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Deviating dental arch morphology in mild coronal craniosynostosis syndromes.

Clinical Oral Investigations

Choi, T M TM; Kragt, L L; Goos, J A C JAC; Mathijssen, I M J IMJ; Wolvius, E B EB; Ongkosuwito, E M EM

Publication Date: 2019-07

Variant appearance in text: FGFR3: P250R

PubMed Link: 30392078

Variant Present in the following documents:

• Main text
• 784_2018_Article_2710.pdf

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Unraveling the Connection between Fibroblast Growth Factor and Bone Morphogenetic Protein Signaling.

International Journal Of Molecular Sciences

Schliermann, Anna A; Nickel, Joachim J

Publication Date: 2018-10-18

Variant appearance in text: FGFR3: P250R

PubMed Link: 30340367

Variant Present in the following documents:

• Main text

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22q and two: 22q11.2 deletion syndrome and coexisting conditions.

American Journal Of Medical Genetics. Part A

Cohen, Jennifer L JL; Crowley, Terrence B TB; McGinn, Daniel E DE; McDougall, Carey C; Unolt, Marta M; Lambert, Michele P MP; Emanuel, Beverly S BS; Zackai, Elaine H EH; McDonald-McGinn, Donna M DM

Publication Date: 2018-10

Variant appearance in text: FGFR3: pro250arg

PubMed Link: 30244528

Variant Present in the following documents:

• Main text

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Crouzon syndrome: Genetic and intervention review.

Journal Of Oral Biology And Craniofacial Research

Al-Namnam, N M NM; Hariri, F F; Thong, M K MK; Rahman, Z A ZA

Publication Date: 2019

Variant appearance in text: FGFR3: Pro250Arg

PubMed Link: 30202723

Variant Present in the following documents:

• Main text

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Serial mutational tracking in surgically resected locally advanced colorectal cancer with neoadjuvant chemotherapy.

British Journal Of Cancer

Sugimachi, Keishi K; Sakimura, Shotaro S; Kuramitsu, Shotaro S; Hirata, Hidenari H; Niida, Atsushi A; Iguchi, Tomohiro T; Eguchi, Hidetoshi H; Masuda, Takaaki T; Morita, Masaru M; Toh, Yasushi Y; Maehara, Yoshihiko Y; Suzuki, Yutaka Y; Mimori, Koshi K

Publication Date: 2018-08

Variant appearance in text: FGFR3: P250R

PubMed Link: 30072744

Variant Present in the following documents:

• Main text

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