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Publications by Christine M. Eng
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
Clinical Application of Whole-Exome Sequencing
JAMA Neurology
Neurology
Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features
Human Genetics
Genetics
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function
Human Mutation
Genetics
De Novo Missense Variant in the GTPase Effector Domain (GED) of DNM1L Leads to Static Encephalopathy and Seizures
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
