American journal of human genetics

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics.

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

Not All Autism Genes Are Created Equal: A Response to Myers et al.

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

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