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Publications by Megan T. Cho
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
Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
American Journal of Human Genetics
Genetics
Genetic Counseling in Industry Settings: Opportunities in the Era of Precision Health
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Congenital Methemoglobinemia Type II in a 5-Year-Old Boy
Clinical Case Reports
Medicine
