Carolyn Bay

University of Louisville — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

13h-index834citations21works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(5), Genomic variations and chromosomal abnormalities(5), Mitochondrial Function and Pathology(4), Genetic Neurodegenerative Diseases(3), Prenatal Screening and Diagnostics(3)

Publications21 total

Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study
Mitochondrion·2013
Endocrine abnormalities in townes–brocks syndrome
American Journal of Medical Genetics Part A·2013· 6 citedOpen Access
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
European Journal of Human Genetics·2011· 48 citedOpen Access
9 Adolescents and adults with inborn errors of metabolism
2011
Adolescents and adults with inborn errors of metabolism
International Journal on Disability and Human Development·2010· 3 cited
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes
American Journal of Medical Genetics Part A·2008· 7 citedOpen Access
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes
American Journal of Medical Genetics Part A·2007· 37 cited
A case of myelodysplastic syndrome with acquired monosomy 7 in a child with a constitutional t(1;19) and a mosaicism for trisomy 21
Cancer Genetics and Cytogenetics·2004· 13 cited
Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s
American Journal of Medical Genetics·2000· 46 cited
Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s
American Journal of Medical Genetics·2000
Neurologic Nonmetabolic Presentation of Propionic Acidemia
Archives of Neurology·1999· 97 cited
Kabuki Make-up Syndrome Associated with an Acquired Hypogammaglobulinemia and Anti IgA Antibodies
Clinical Pediatrics·1996· 27 cited
Mild Brachmann‐de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six‐year‐old boy
American Journal of Medical Genetics·1993· 20 cited
Regional variation in brain lactate in leigh syndrome by localized <sup>1</sup>H magnetic resonance spectroscopy
Annals of Neurology·1991· 88 cited
Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine
Pediatric Research·1985· 22 citedOpen Access
Syndrome of Cutis Laxa Ligamentous Laxity and Delayed Development
PEDIATRICS·1983· 42 cited
Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients
Developmental Medicine & Child Neurology·1982· 119 cited
Joseph disease and Huntington disease
Neurology·1981· 29 cited
Joseph disease
Neurology·1979
Joseph disease
Neurology·1979· 30 cited
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Frequent Co-authors

William L. Nyhan(8), Roger N. Rosenberg(4), Bryan D. Hall(3), Fred Baskin(3), Sharon L. Wenger(2), Leslie Y. Boone(2), James H. Cummins(2), Maria A. Del Vecchio(2), Marybeth Hummel(2), Patricia Mowery‐Rushton(2), Ronald G. Cadle(2), Shannon M. Morrill‐Cornelius(2), Joel B. Kirkpatrick(2), Ashley Daub(2), Parkhurst A. Shore(1), Richard Christie(1), Irvin A. Kaufman(1), Bohdan Bakay(1), Margaret Borden(1), Eduard Beyer(1)