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A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding

A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia

Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

Exome-derived adiponectin-associated variants implicate obesity and lipid biology

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures

Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds

Modeling linkage disequilibrium increases accuracy of polygenic risk scores

Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

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