Publications:

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

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

Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI

Publication Date: 2022-11-29

Variant appearance in text: BRAF: P492del

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

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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: BRAF: P492del

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

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BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications, and Concurrent Alterations.

Jco Precision Oncology

Sheikine, Yuri Y; Pavlick, Dean D; Klempner, Samuel J SJ; Trabucco, Sally E SE; Chung, Jon H JH; Rosenzweig, Mark M; Wang, Kai K; Velcheti, Vamsidhar V; Frampton, Garrett M GM; Peled, Nir N; Murray, Molly M; Chae, Young Kwang YK; Albacker, Lee A LA; Gay, Laurie L; Husain, Hatim H; Suh, James H JH; Millis, Sherri Z SZ; Reddy, Venkataprasanth P VP; Elvin, Julia A JA; Hartmaier, Ryan J RJ; Dowlati, Afshin A; Stephens, Phil P; Ross, Jeffrey S JS; Bivona, Trever G TG; Miller, Vincent A VA; Ganesan, Shridar S; Schrock, Alexa B AB; Ou, Sai-Hong Ignatius SI; Ali, Siraj M SM

Publication Date: 2018

Variant appearance in text: BRAF: P492del

PubMed Link: 32913992

Variant Present in the following documents:

• Main text

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: BRAF: P492del

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 11

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Prospective Comprehensive Genomic Profiling of Primary and Metastatic Prostate Tumors.

Jco Precision Oncology

Chung, Jon H JH; Dewal, Ninad N; Sokol, Ethan E; Mathew, Paul P; Whitehead, Robert R; Millis, Sherri Z SZ; Frampton, Garrett M GM; Bratslavsky, Gennady G; Pal, Sumanta K SK; Lee, Richard J RJ; Necchi, Andrea A; Gregg, Jeffrey P JP; Lara, Primo P; Antonarakis, Emmanuel S ES; Miller, Vincent A VA; Ross, Jeffrey S JS; Ali, Siraj M SM; Agarwal, Neeraj N

Publication Date: 2019

Variant appearance in text: BRAF: P492del

PubMed Link: 31218271

Variant Present in the following documents:

• PO.18.00283.pdf

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