Publications:

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: PI3K: 3097C>A

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Nature Genetics

Rivière, Jean-Baptiste JB; Mirzaa, Ghayda M GM; O'Roak, Brian J BJ; Beddaoui, Margaret M; Alcantara, Diana D; Conway, Robert L RL; St-Onge, Judith J; Schwartzentruber, Jeremy A JA; Gripp, Karen W KW; Nikkel, Sarah M SM; Worthylake, Thea T; Sullivan, Christopher T CT; Ward, Thomas R TR; Butler, Hailly E HE; Kramer, Nancy A NA; Albrecht, Beate B; Armour, Christine M CM; Armstrong, Linlea L; Caluseriu, Oana O; Cytrynbaum, Cheryl C; Drolet, Beth A BA; Innes, A Micheil AM; Lauzon, Julie L JL; Lin, Angela E AE; Mancini, Grazia M S GM; Meschino, Wendy S WS; Reggin, James D JD; Saggar, Anand K AK; Lerman-Sagie, Tally T; Uyanik, Gökhan G; Weksberg, Rosanna R; Zirn, Birgit B; Beaulieu, Chandree L CL; , ; Majewski, Jacek J; Bulman, Dennis E DE; O'Driscoll, Mark M; Shendure, Jay J; Graham, John M JM; Boycott, Kym M KM; Dobyns, William B WB

Publication Date: 2012-06-24

Variant appearance in text: PIK3CA: Gln1033Lys

PubMed Link: 22729224

Variant Present in the following documents:

• NIHMS382270-supplement-1.pdf

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Rare cancer-specific mutations in PIK3CA show gain of function.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gymnopoulos, Marco M; Elsliger, Marc-André MA; Vogt, Peter K PK

Publication Date: 2007-03-27

Variant appearance in text: PI3K: Q1033K

PubMed Link: 17376864

Variant Present in the following documents:

• Main text

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