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American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
American Journal of Human Genetics|July 7, 2023
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomesVerena Zuber, Alex Lewin, Michael G Levin, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
American Journal of Human Genetics|August 24, 2023
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genesDanyue Dong, Haoyu Shen, Zhenguo Wang, et al.
American Journal of Human Genetics|August 22, 2023
The phenotype-genotype reference map: Improving biobank data science through replicationLisa Bastarache, Sarah Delozier, Anita Pandit, et al.
American Journal of Human Genetics|August 22, 2023
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individualsMenno Ter Huurne, Benjamin L Parker, Ning Qing Liu, et al.
American Journal of Human Genetics|August 26, 2023
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritabilityLin Miao, Lin Jiang, Bin Tang, et al.
American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.
American Journal of Human Genetics|June 13, 2023
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestryBurcu F Darst, Jiayi Shen, Ravi K Madduri, et al.
American Journal of Human Genetics|October 10, 2023
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNASihao Xiao, Zhentian Kai, Daniel Murphy, et al.
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