[HTML][HTML] Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

…, A Mahajan, J Wessel, TM Teslovich, L Caulkins… - Nature, 2019 - nature.com
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with …

[HTML][HTML] Type 2 diabetes variants disrupt function of SLC16A11 through two distinct mechanisms

…, H Moreno-Macías, A Manning, L Caulkins… - Cell, 2017 - cell.com
Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European
descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the …

[HTML][HTML] Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

…, JB Cole, B Weisburd, N Watts, L Caulkins… - Nature …, 2021 - nature.com
Hundreds of thousands of genetic variants have been reported to cause severe monogenic
diseases, but the probability that a variant carrier develops the disease (termed penetrance) …

[PDF][PDF] The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

…, M von Grotthuss, J Massung, D Jang, L Caulkins… - Cell metabolism, 2023 - cell.com
Associations between human genetic variation and clinical phenotypes have become a
foundation of biomedical research. Most repositories of these data seek to be disease-agnostic …

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes

…, F Centeno-Cruz, F Barajas-Olmos, L Caulkins… - Diabetes, 2017 - Am Diabetes Assoc
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the
health care system continue to rise. To identify common or rare genetic variation with potential …

[HTML][HTML] Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

…, TM Teslovich, V Agarwala, KJ Gaulton, L Caulkins… - Scientific data, 2017 - nature.com
To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and
T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 …

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

…, A Mahajan, J Wessel, TM Teslovich, L Caulkins… - bioRxiv, 2018 - biorxiv.org
Protein-coding genetic variants that strongly affect disease risk can provide important clues
into disease pathogenesis. Here we report an exome sequence analysis of 20,791 type 2 …

[HTML][HTML] Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

…, TM Teslovich, V Agarwala, KJ Gaulton, L Caulkins… - Scientific data, 2018 - nature.com
Lizz Caulkins , … Lizz Caulkins

An Open-Access Platform for Translating Diabetes and Cardiometabolic Disease Genetics Into Accessible Knowledge

M Costanzo, K Bruskiewicz, L Caulkins… - Journal of the …, 2021 - academic.oup.com
Introduction: In 2020 the World Health Organization estimated that the number of people
with dementia was 50 million in the world. Furthermore, it is expected about 10 million new …

[PDF][PDF] Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

KJ Gaulton, L Caulkins - core.ac.uk
Caulkins, et al. 2017. “Sequence data and association statistics from 12,940 type 2
diabetes cases and controls.” Scientific Data 4 (1): 170179. … Gaulton 4 , Lizz Caulkins 2 …