[HTML][HTML] Using high-resolution variant frequencies to empower clinical genome interpretation

…, R Walsh, AH O'Donnell-Luria, K Karczewski, AY Ing… - Genetics in …, 2017 - Elsevier
Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy

…, M Ahmad, PI Theotokis, E Edwards, AY Ing… - Circulation, 2020 - Am Heart Assoc
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100
purported disease genes tested in clinical laboratories. However, many genes were originally …

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

…, M Gigli, D Stolfo, M Dal Ferro, AY Ing… - Circulation: Heart …, 2019 - Am Heart Assoc
Background Variants in the cardiomyocyte-specific RNA splicing factor RBM20 have been
linked to familial cardiomyopathy, but the causative genetic architecture and clinical …

Retinopathy and chronic kidney disease in the Chronic Renal Insufficiency Cohort (CRIC) study

JE Grunwald, J Alexander, GS Ying… - Archives of …, 2012 - jamanetwork.com
Objective To investigate the association between retinopathy and chronic kidney disease.
Methods In this observational, cross-sectional study, 2605 patients of the Chronic Renal …

Tumor-derived circulating endothelial cell clusters in colorectal cancer

…, D Lee, M Hu, C Iliescu, I Alexander… - Science translational …, 2016 - science.org
Clusters of tumor cells are often observed in the blood of cancer patients. These structures
have been described as malignant entities for more than 50 years, although their …

Queer (y) ing the postcolonial through the West (ern)

BK Alexander - Handbook of critical and indigenous …, 2008 - books.google.com
And for those historical legacies perpetuated through contemporary social relations penetrating
and infusing a double consciousness of social life, not just for Black folk, but that duality …

Splanchnic erythrocyte content decreases during hemodialysis: a new compensatory mechanism for hypovolemia

WY Alex, ZM Nawab, WE Barnes, KN Lai, TS Ing… - Kidney international, 1997 - Elsevier
… The deep breathing test and Valsalva maneuvers were also … radioisotope count observed
during DUF was not due to loss … to plasma during DUF, increasing the plasma counts slightly. …

The role of P2Y12 receptor and activated platelets during inflammation

E Liverani, LE Kilpatrick, AY Tsygankov… - Current drug …, 2014 - ingentaconnect.com
… For example, during sepsis, platelet aggregation was impaired depending on sepsis severity
in a number of studies [30-32], although platelet adhesion was preserved [33]. P-selectin se…

[PDF][PDF] SARS-CoV-2 Omicron-B. 1.1. 529 leads to widespread escape from neutralizing antibody responses

…, JK Baillie, PJM Openshaw, G Carson, B Alex… - Cell, 2022 - cell.com
… To examine the effect of booster vaccination, we tested neutralization of Victoria, Delta,
and Omicron viruses using sera from individuals receiving 3 doses of ADZ1222 (n = 41) or …

[PDF][PDF] The antigenic anatomy of SARS-CoV-2 receptor binding domain

…, NM Kafai, AL Bailey, RE Chen, B Ying… - Cell, 2021 - cell.com
Antibodies are crucial to immune protection against SARS-CoV-2, with some in emergency
use as therapeutics. Here, we identify 377 human monoclonal antibodies (mAbs) …