Elizabeth Wohler - Concepedia

Author

Elizabeth Wohler

Also Known As

Elena Abarca, Elizabeth C Chao, Elizabeth S Wohler, Elizabeth S. Wohler, Elizabeth Squibb Wohler, Elizabeth Wohler, Isaac Wong, Robert Steiner

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Johns Hopkins University Johns Hopkins Medicine Kennedy Krieger Institute Baylor College of Medicine National Institutes of Health

About

Elizabeth Wohler is an author at Johns Hopkins University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	13	831
2	Engineering	2	2	32
3	Arts	1	1	46
4	Natural Sciences	1	1	48
5	Biology	1	1	32

Elizabeth Wohler

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene Nara Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos, PLoS Genetics Exon FourGeneticsGenetic EpidemiologyPathologyMolecular Genetics	2010	211
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Journal of Clinical Investigation Myelin DevelopmentMyelin SheathNeurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological Disease	2019	101
Genomic analysis of partial 21q monosomies with variable phenotypes Elisha Roberson, Elizabeth Wohler, Julie Hoover‐Fong, European Journal of Human Genetics Genetic DisorderGeneticsStatistical GeneticsPartial 21QGenomics	2010	100
Mosaic trisomy 13: understanding origin using SNP array Natini Jinawath, Elizabeth Wohler, Maria Palmquist, Journal of Medical Genetics	2010	95
The impact of chromosomal microarray on clinical management: a retrospective analysis Lindsay B. Henderson, Carolyn Applegate, Elizabeth Wohler, Genetics in Medicine Clinical ManagementCytogeneticsMedicineGeneticsDna Microarrays	2014	71
3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition Feng Li, Emily C. Lisi, Elizabeth Wohler, European Journal of Medical Genetics CardiomyopathyHeart FailureInherited CaseCongenital Heart DefectNeurology	2009	69
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations John Devane, Elisabeth Ott, Eric Olinger, The American Journal of Human Genetics	2022	51
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing Nara L. M. Sobreira, Veena Gnanakkan, Michael F. Walsh, Genome Research CytogeneticsGeneticsMolecular BiologyGenomicsKaryotype Imaging	2011	48
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for <i>HMX2</i> and <i>HMX3</i> as candidate genes in hearing and vestibular function Nathaniel D. Miller, Melonie A. Nance, Elizabeth Wohler, American Journal of Medical Genetics Part A GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomics	2009	46
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Human Genetics InflammationIfih1 Loss-of-function VariantsAutoimmune DiseaseDisease MechanismMucosal Immunology	2021	42

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