Publications:

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Plastic And Reconstructive Surgery. Global Open

Davis, Amani A AA; Haredy, Mostafa M MM; Huey, Jennifer J; Scanga, Hannah H; Zuccoli, Giulio G; Pollack, Ian F IF; Tamber, Mandeep S MS; Goldstein, Jesse J; Madan-Khetarpal, Suneeta S; Nischal, Ken K KK

Publication Date: 2019-12

Variant appearance in text: KRAS: 188A>G

PubMed Link: 32537296

Variant Present in the following documents:

• Main text
• gox-7-e2540.pdf

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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

American Journal Of Medical Genetics. Part A

Levin, Mark D MD; Saitta, Sulagna C SC; Gripp, Karen W KW; Wenger, Tara L TL; Ganesh, Jaya J; Kalish, Jennifer M JM; Epstein, Michael R MR; Smith, Rosemarie R; Czosek, Richard J RJ; Ware, Stephanie M SM; Goldenberg, Paula P; Myers, Angela A; Chatfield, Kathryn C KC; Gillespie, Matthew J MJ; Zackai, Elaine H EH; Lin, Angela E AE

Publication Date: 2018-08

Variant appearance in text: KRAS: 188A>G

PubMed Link: 30055033

Variant Present in the following documents:

• Main text

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KRAS: E63G

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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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: KRAS: 188A>G

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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