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Science Translational Medicine|December 15, 2018
The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disordersChao Chen, Qingtuan Meng, Yan Xia, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Genetics in Medicine Open|January 16, 2026
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility geneHyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, et al.
Genome Research|February 3, 2005
Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assayPaul Hardenbol, Fuli Yu, John Belmont, et al.
Plos One|March 18, 2022
Analysis of accumulated SARS-CoV-2 seroconversion in North Carolina: The COVID-19 Community Research PartnershipJohn C Williamson, Thomas F Wierzba, Michele Santacatterina, et al.
American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.
Human Molecular Genetics|October 26, 2020
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activityHarikiran Nistala, John Dronzek, Claudia Gonzaga-Jauregui, et al.
HGG Advances|June 1, 2022
Accounting for population structure in genetic studies of cystic fibrosisHanley Kingston, Adrienne M Stilp, William Gordon, et al.
Nature Medicine|September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelJeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
BMC Medical Genomics|July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rateWu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
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