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Publications by Donna M. Muzny
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
JAMA Neurology
Neurology
Leveraging Human Microbiome Features to Diagnose and Stratify Children With Irritable Bowel Syndrome
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Identification ofTP53as an Acute Lymphocytic Leukemia Susceptibility Gene Through Exome Sequencing
Pediatric Blood and Cancer
Oncology
Child Health
Hematology
Perinatology
Medicine
Pediatrics
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
SV-STAT Accurately Detects Structural Variation via Alignment to Reference-Based Assemblies
Source Code for Biology and Medicine
Computer Science Applications
Information Systems
Management
Health Informatics
Genome of the Asian Longhorned Beetle (Anoplophora Glabripennis), a Globally Significant Invasive Species, Reveals Key Functional and Evolutionary Innovations at the Beetle–plant Interface
Genome Biology
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