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Publications by Stephen W. Scherer

Genome-Wide Association Study Identifies Eight Risk Loci and Implicates Metabo-Psychiatric Origins for Anorexia Nervosa

Nature Genetics

English

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

American Journal of Human Genetics

English

Single Cell-Derived Clonal Analysis of Human Glioblastoma Links Functional and Genomic Heterogeneity

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Delineating the 15q13.3 Microdeletion Phenotype: A Case Series and Comprehensive Review of the Literature

Genetics in Medicine

English

The Cardiac Genome Clinic: Implementing Genome Sequencing in Pediatric Heart Disease

Genetics in Medicine

English

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

English

Mutations in RAB39B in Individuals With Intellectual Disability, Autism Spectrum Disorder, and Macrocephaly

Molecular Autism

Developmental Neuroscience

Developmental Biology

Molecular Biology

English

Periodic Reanalysis of Whole-Genome Sequencing Data Enhances the Diagnostic Advantage Over Standard Clinical Genetic Testing

European Journal of Human Genetics

English

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

Multidisciplinary

English

Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual

American Journal of Human Genetics

English