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Publications by Lisa Edelmann

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

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2017English

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

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Detection of Low-Level Mosaicism and Placental Mosaicism by Oligonucleotide Array Comparative Genomic Hybridization

Genetics in Medicine
MedicineGenetics
2009English

The TATA Binding Protein in the Sea Urchin Embryo Is Maternally Derived

Developmental Biology
Developmental BiologyCell BiologyMolecular Biology
1998English

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