Concepedia

Margretta R. Seashore

MR

37

Publications

3.7K

Citations

28

H-Index

1970

Active since

Affiliations

Yale University(Current)

University of Wisconsin–Madison

Children's Hospital of Los Angeles

University of North Carolina at Chapel Hill

Margretta R. Seashore is an author at Yale University specializing in medicine, genetics, and pediatrics.

Top concepts

MedicineGeneticsPediatricsMetabolismPathologyPublic HealthHealthPhysiologyClinical ChemistryNutrition

Publications per year

1970–2015

37

Publications

37

The Genetics of Hand Malformations

Margretta R. Seashore · Europe PMC (PubMed Central) · 1979 · 710 citations

Developmental Anomaly, Thumb Hypoplasia, Hand Malformations +7

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Gaucher Disease: A Century of Delineation and Research

Margretta R. Seashore · PubMed Central · 1983 · 220 citations

Disease Mechanism, Pathogenesis, Disease Control +4

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

D. S. Rosenblatt, Anne Aspler, Michael Shevell et al. · Journal of Inherited Metabolic Disease · 1997 · 214 citations

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Sau Wai Cheung, Chad A. Shaw, Daryl A. Scott et al. · American Journal of Medical Genetics Part A · 2007 · 189 citations

Genetic Testing, Cytogenetics, Genetics +18

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