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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.
Molecular Psychiatry|July 2, 2020
Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorderScott C Fears, Susan K Service, Barbara Kremeyer, et al.
Human Molecular Genetics|September 21, 2006
Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34Ibi Herzberg, Anna Jasinska, Jenny García, et al.
Brain : a Journal of Neurology|May 7, 2015
Brain structure-function associations in multi-generational families genetically enriched for bipolar disorderScott C Fears, Remmelt Schür, Rachel Sjouwerman, 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.
Nature Neuroscience|March 18, 2018
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortiumStephan J Sanders, Benjamin M Neale, Hailiang Huang, et al.
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