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Nature Communications|October 10, 2020
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer riskWeiva Sieh, Joseph H Rothstein, Robert J Klein, et al.
Genomics|September 10, 2011
Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithmThomas J Hoffmann, Yiping Zhan, Mark N Kvale, et al.
Nature Genetics|October 1, 2003
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndromeRaymonda Varon, Rebecca Gooding, Christina Steglich, et al.
Nature Genetics|June 18, 2021
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohortsYogasudha Veturi, Anastasia Lucas, Yuki Bradford, et al.
Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.
Plos One|January 31, 2015
Genealogical relationships between early medieval and modern inhabitants of PiedmontStefania Vai, Silvia Ghirotto, Elena Pilli, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Human Genetics|November 12, 2005
Population stratification confounds genetic association studies among LatinosShweta Choudhry, Natasha E Coyle, Hua Tang, et al.
Cancer Research|December 9, 2020
A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer SusceptibilityNima C Emami, Taylor B Cavazos, Sara R Rashkin, et al.
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