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Publications in Genetics

This Month in the Journal

American Journal of Human Genetics

English

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results From the BabySeq Project

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Integrative Multi-Omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2

American Journal of Human Genetics

English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

American Journal of Human Genetics

English

Analyzing and Reanalyzing the Genome: Findings From the MedSeq Project

American Journal of Human Genetics

English

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

American Journal of Human Genetics

English

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

American Journal of Human Genetics

English