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Publications by Melissa Haendel
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
Capturing Phenotypes for Precision Medicine
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
The Influence of Disease Categories on Gene Candidate Predictions From Model Organism Phenotypes
Journal of Biomedical Semantics
Computer Networks
Computer Science Applications
Health Informatics
Information Systems
Communications
The Health Care and Life Sciences Community Profile for Dataset Descriptions
PeerJ
Genetics
Molecular Biology
Biochemistry
Biological Sciences
Medicine
Agricultural
Neuroscience
Dealing With Data: A Case Study on Information and Data Management Literacy