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Publications by Ruth Kornreich

An Ashkenazi Jewish SMN1 Haplotype Specific to Duplication Alleles Improves Pan-Ethnic Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine
MedicineGenetics
2013English

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2016English

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2016English

Lessons Learned From Expanded Reproductive Carrier Screening in Self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish Patients

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

CYP2C9*8is Prevalent Among African–Americans: Implications for Pharmacogenetic Dosing

Pharmacogenomics
Molecular MedicineGeneticsPharmacology
2009English

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