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Publications by Daryl A. Scott
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
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
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
Human Subtelomeric Copy Number Gains Suggest a DNA Replication Mechanism for Formation: Beyond Breakage–fusion–bridge for Telomere Stabilization
Human Genetics
Genetics
Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Duplication ofHEY2in Cardiac and Neurologic Development
American Journal of Medical Genetics, Part A
Genetics
Xp11.22 Deletions Encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a Cause of Syndromic X-Linked Intellectual Disability
PLoS ONE
Multidisciplinary
Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing theDFNB7andDFNB11Region of Chromosome 9q13–21
Genome Research
Genetics
