Elizabeth Wohler

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Nara Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos et al. · PLoS Genetics · 2010 · 211 citations · Full text

Exon Four, Genetics, Genetic Epidemiology +19

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 101 citations · Full text

Myelin Development, Myelin Sheath, Neurodegenerative Diseases +15

Genomic analysis of partial 21q monosomies with variable phenotypes

Elisha Roberson, Elizabeth Wohler, Julie Hoover‐Fong et al. · European Journal of Human Genetics · 2010 · 100 citations · Full text

Genetic Disorder, Genetics, Statistical Genetics +4

Mosaic trisomy 13: understanding origin using SNP array

Natini Jinawath, Elizabeth Wohler, Maria Palmquist et al. · Journal of Medical Genetics · 2010 · 95 citations

The impact of chromosomal microarray on clinical management: a retrospective analysis

Lindsay B. Henderson, Carolyn Applegate, Elizabeth Wohler et al. · Genetics in Medicine · 2014 · 71 citations

Clinical Management, Cytogenetics, Medicine +10