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Publications by Isaac S. Kohane
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
Suicide Rates Among Adolescents and Young Adults in the United States, 2000-2017
JAMA - Journal of the American Medical Association
Medicine
iPSC-derived Neurons as a Higher-Throughput Readout for Autism: Promises and Pitfalls
Trends in Molecular Medicine
Molecular Medicine
Molecular Biology
What We'll See at the Revolution in Care
Health Affairs
Medicine
Health Policy
Probabilistic Record Linkage of De-Identified Research Datasets With Discrepancies Using Diagnosis Codes
Scientific data
Statistics
Probability
Information Sciences
Uncertainty
Library
Information Systems
Computer Science Applications
Education
EMR-linked GWAS Study: Investigation of Variation Landscape of Loci for Body Mass Index in Children
Frontiers in Genetics
Genetics
Molecular Medicine
Drug Target-Gene Signatures That Predict Teratogenicity Are Enriched for Developmentally Related Genes
Reproductive Toxicology
Toxicology
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