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Margretta R. Seashore

Yale University(US)

Publications by Year

Research Areas

Metabolism and Genetic Disorders, Diet and metabolism studies, Amino Acid Enzymes and Metabolism, Mitochondrial Function and Pathology, Folate and B Vitamins Research

Most-Cited Works

The Genetics of Hand Malformations(1979)
Gaucher Disease: A Century of Delineation and Research(1983)
→ Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)(1997)214 cited
→ Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics(2007)189 cited
→ High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
Human Genetics. Part A: The Unfolding Genome(1984)
→ Fifty families with abdominal aortic aneurysms in two or more first-order relatives(1984)165 cited
→ Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited

→ Increased GABAergic Tone in the Ventromedial Hypothalamus Contributes to Suppression of Counterregulatory Reponses After Antecedent Hypoglycemia(2008)

106 cited

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.(1992)