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: H574L

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

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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: BRAF: 1721A>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Clonal architectures and driver mutations in metastatic melanomas.

Plos One

Ding, Li L; Kim, Minjung M; Kanchi, Krishna L KL; Dees, Nathan D ND; Lu, Charles C; Griffith, Malachi M; Fenstermacher, David D; Sung, Hyeran H; Miller, Christopher A CA; Goetz, Brian B; Wendl, Michael C MC; Griffith, Obi O; Cornelius, Lynn A LA; Linette, Gerald P GP; McMichael, Joshua F JF; Sondak, Vernon K VK; Fields, Ryan C RC; Ley, Timothy J TJ; Mulé, James J JJ; Wilson, Richard K RK; Weber, Jeffrey S JS

Publication Date: 2014

Variant appearance in text: BRAF: H574L

PubMed Link: 25393105

Variant Present in the following documents:

• Main text
• pone.0111153.pdf

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