BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral

S Piedimonte, J Power, WD Foulkes, E Weber… - International Journal of …, 2020 - ijgc.bmj.com
Objective Up to 15% of patients with high-grade serous ovarian, tubal, or peritoneal
carcinoma harbor a mutation in BRCA genes. Early notion of mutation status may facilitate …

Allelic expression mapping across cellular lineages to establish impact of non‐coding SNP s

V Adoue, A Schiavi, N Light, JC Almlöf… - Molecular Systems …, 2014 - embopress.org
Most complex disease‐associated genetic variants are located in non‐coding regions and
are therefore thought to be regulatory in nature. Association mapping of differential allelic …

The empress of subterfuge: cancer of the fallopian tube presenting with malapropism

L Gilbert, T Revil, C Meunier, K Jardon, X Zeng… - The Lancet, 2017 - thelancet.com
A 58-year-old realtor presented to her community hospital with an acute left-sided facial
droop in December, 2015. She reported that in the past 2 months her children had noticed …

Direct assessment and validation of allele specific transcription factor binding in the human genome

A Schiavi - 2013 - escholarship.mcgill.ca
Characterization of human genetic variation has focused on expression quantitative trait loci
(eQTL) mapping; however, direct assessment of cis-regulatory variation requires allele …

[HTML][HTML] Human genetics in full resolution

A Schiavi, N Light, V Adoue, S Busche, T Pastinen - 2011 - Springer
Human genetics in full resolution | Genome Biology Skip to main content SpringerLink Account
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