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Curriculum Vitae Arthur S. Aylsworth, M.D. CURRICULUM VITAE Personal Information Name Arthur Selden Aylsworth Home Address 714A Greenwood Road, Chapel Hill, NC 27514 Home Phone (919) 942-7817 Office Address CB# 7487 - UNC Campus The University of North Carolina at Chapel Hill (UNC-CH) Chapel Hill, NC 27599-7487 Office Phone - 919 966-4202; Fax - 919-966-3025 Email [email protected] Education 1982-1983 Visiting Associate Research Professor, Department of Medicine, Duke University, Durham, NC 1970-1971 Research Fellow, Florida Heart Association 1969-1971 Post-Doctoral Fellow, Department of Pediatrics and the Institutional Division of Genetics, Endocrinology, and Metabolism, University of Florida College of Medicine, Gainesville, FL 1967-1969 Intern and Resident in Pediatrics, University of Florida College of Medicine, Shands Teaching Hospital, Gainesville, FL 1967 M.D., University of Pennsylvania School of Medicine, Philadelphia, PA 1963 B. Engineering Physics, Cornell University College of Engineering, Ithaca, NY Professional Experience - Employment History 2001 - Research Professor, Dept. of Genetics, UNC-CH 2001 - Member, UNC-CH Center for Genome Science 1995 - 2004 Chief, Division of Genetics and Metabolism, Dept. of Pediatrics, UNC-CH 1991-95 Acting Div. Chief, Pediatric Genetics and Metabolism, UNC-CH 1993 - Professor, Dept. of Pediatrics, Div. of Genetics and Metabolism, UNC-CH 1980 - 1993 Associate Prof., Dept. of Pediatrics, Div. Genetics and Metabolism, UNC-CH. 1975 - 1980 Assistant Prof., Dept. of Pediatrics, Div. Genetics and Metabolism, UNC-CH. 1980 - 2001 Research Scientist, the Neuroscience Center at UNC-CH (formerly Brain and Development Research Center, formerly Biological Sciences Research Center) 1977 - 1995 Director, Genetic Counseling Program, UNC-CH (Acting Director, 1976 - 1977) 1974 - Member, UNC Craniofacial Center (formerly the Oral-Facial and Communicative Disorders Program), UNC-CH 1974 - Medical Staff, University of North Carolina Hospitals, Chapel Hill 1973 - 1975 Instructor, Dept. of Pediatrics, Div. of Genetics and Metabolism, UNC-CH. 1971 - 1973 Major, U.S. Air Force Medical Corps; Staff Pediatrician, Wilford Hall Medical Center, Lackland Air Force Base, Texas. 1 Arthur S. Aylsworth, M.D. Certification/Licensure American Board of Medical Genetics (#1016, Clinical Genetics, 3/19/82) Board of Medical Examiners, State of North Carolina (#19042, 1/26/74) American Board of Pediatrics (#15965, 5/14/73) Board of Medical Examiners, State of Florida (#14897, 3/6/70; inactive) National Board of Medical Examiners (#94856, 4/21/69) Professional Societies American Society of Human Genetics American College of Medical Genetics (Founding Fellow) North Carolina Pediatric Society North Carolina Medical Genetics Association Chairman, Dysmorphology Committee, 1990 - 92 Chairman, Planning and Advisory Committee, 1986-87 Chairman, 1985-86 Vice-Chairman, 1984-85 American Medical Association American Academy of Pediatrics Bone Dysplasia Society Special Honors and Awards “Best Doctors in America,” 2011 - 2014 The National Neurofibromatosis Foundation Recognition Award, 1989. Recipient, Travel Award from the American Society of Human Genetics for the Seventh International Congress of Human Genetics, Berlin, Sept., 1986. Kenan Leave, 7/1/82-6/30/83, The University of North Carolina PUBLICATIONS Contributions to Books and Series Aylsworth, AS: “The Spleen.” Chapter in Human Malformations, 3rd Ed, Oxford Monographs on Medical Genetics, RE Stevenson, JG Hall, DB Everman, BD Solomon, Eds. Oxford Press 2015. Includes entries on “Introduction,” “Accessory Spleens,” “Ectopic Spleen,” “Splenic Structural Variation,” “Splenic Fusion to Other Organs,” “Asplenia,” and “Polysplenia.” Aylsworth, AS: “Laterality.” Entries in Human Malformations, 3rd Ed, Oxford Monographs on Medical Genetics, RE Stevenson, JG Hall, DB Everman, BD Solomon, Eds. Oxford Press 2015. Includes entries on “Situs Ambiguus” and “Situs Inversus.” Watkins SE, Meyer RE, Strauss RP, Aylsworth AS: “Classification, Epidemiology, and Genetics of Orofacial Clefts,” Clin Plast Surg. 2014 Apr;41(2):149-63. PMID:24607185 2 Arthur S. Aylsworth, M.D. Krantz IA, Aylsworth AS: Liver, Gallbladder, and Pancreas. Chapter 27 in Human Malformations and Related Anomalies, 2nd Edition, Oxford Monographs on Medical Genetics, R.E. Stevenson, J.G. Hall, et al. Eds., Oxford Press, 2006. Aylsworth, A.S.: The Spleen. Chapter 5 Human Malformations and Related Anomalies, 2nd Edition, Oxford Monographs on Medical Genetics, R.E. Stevenson, J.G. Hall, et al, Eds., Oxford Press, 2006. Aylsworth, AS: Clinical Genetics and Phenotype Definition. Chapter 2 in Genetic Analysis of Complex Disease, 2nd edition. JL Hains and MA Pericak-Vance eds, New York: Wiley-Liss, Inc., 2006. Aylsworth AS: Genotype. Encyclopedia of Human Development, N. J. Salkind Ed, Sage Publications, 2005. Aylsworth AS: Phenotype. Encyclopedia of Human Development, N. J. Salkind Ed, Sage Publications, 2005. Aylsworth AS: Mechanisms of Inheritance. Encyclopedia of Genetics, Genomics, Proteomics, and Bioinformatics, Volume I Genetics, L. B. Jorde, Ed., John Wiley and Sons, 2005. Aylsworth AS: Defining Disease Phenotypes. Chapter 3 in Approaches to Gene Mapping in Complex Human Diseases, JL Hains and MA Pericak-Vance eds, Wiley-Liss, Inc., 1998. Aylsworth, A.S.: Genetic Considerations in Craniofacial Birth Defects. Chapter 2 in Principles and Management of Facial Clefting Disorders and Craniosynostosis. W.B. Saunders, Philadelphia, 1996. Aylsworth A.S., Sulik K.K.: Liver, Gallbladder, and Pancreas. Chapter 18 in Volume II of Human Malformations and Related Anomalies, Oxford Monographs on Medical Genetics no. 27, R.E. Stevenson, J.G. Hall, R.M. Goodman, Eds., Oxford Press, 1993, pp. 445 - 474. Aylsworth, A.S.: The Spleen. Chapter 11 in Volume II of Human Malformations and Related Anomalies, Oxford Monographs on Medical Genetics no. 27, R.E. Stevenson, J.G. Hall, R.M. Goodman, Eds., Oxford Press, 1993, pp. 307-321. Aylsworth, A.S.: Genetic counseling for patients with birth defects. Pediatric Clinics of North America, 39:229-253, 1992 Aylsworth, A.S.: The prediction of risk and genetic counseling for craniofacial abnormalities. In Risk Assessment in Dentistry. J.D. Bader, Ed., Published by the University of North Carolina Department of Dental Ecology, Chapel Hill, 1990, pp 261-266. Aylsworth, A.S.: Anus-Hand-Ear Syndrome. Birth Defects Encyclopedia, Center for Birth Defects Information Services, Cambridge, Mass. and Blackwell Scientific Publications, St. Louis, Mo., 1990 Aylsworth, A.S.: Genetic Considerations in Clefts of the Lip and Palate. Reprinted in Selected Readings in Plastic Surgery, vol. 5, #20, 1989. Aylsworth, A.S.: Genetic Considerations in Clefts of the Lip and Palate. Clinics in Plastic Surgery 12(4):533-542, 1985. Greenwood, R.S., Kahler, S.G., and Aylsworth, A.S.: Inherited metabolic diseases, Chapter 9 in Pediatric Neurology (3rd ed.), T.W. Farmer, Editor. Harper and Row, Philadelphia, 1983, pp. 281-401. Aylsworth, A.S., and Kirkman, H.N.: Genetic counseling for autosomal dominant disorders with incomplete penetrance. Birth Defects Original Article Series 15(5C):25-38, 1979. 3 Arthur S. Aylsworth, M.D. Buchanan, P.D., Rao, K.W., Doerr, C.L., and Aylsworth, A.S.: A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del (14) (q13-q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Original Article Series 14(6C):317- 322, 1978. Rao, K.W., Buchanan, P.D., and Aylsworth, A.S.: Asymmetric clinical and cytogenetic findings in a 4-year-old girl with trisomy 18 mosaicism. Birth Defects Original Article Series 14(6C):349- 354, 1978. Wilson, W.G., Aylsworth, A.S., Folds, J.D., and Whisnant, J.K.: Cartilage-hair hypoplasia with combined immune deficiency: variable expression and development of immunologic function in siblings. Birth Defects Original Article Series 14 (6A):117-129, 1978. Aylsworth, A.S.: The burden and prevention of genetic diseases and their consequences. Part I: Malformations. In Perspectives in Primary Prevention. Proceedings of the Fourteenth Annual John W. Umstead Series of Distinguished Lectures. Published by the North Carolina Division of Mental Health and Mental Retardation Services, 1978, pp. 120-130. Submitted to Refereed Journals Warren J, Correa A, Herring AH, Olshan AF, Aylsworth AS, Langlois P,; Luben T, Stingone JA: Modeling Daily Windows of Susceptibility for Maternal PM2.5 Exposure and Congenital Heart Defects. Environmental Health Perspectives, submitted Nov 2014 Published in Refereed Journals Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J-B, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel J-L, Stevenson RE, Friez MJ, Aylsworth AS: Ten New Cases Further Delineate the Syndromic Intellectual Disability Phenotype Caused by Mutations in DYRK1A. Submitted to European Journal of Human Genetics, In Press, 2015 Olney RC, Prickett TCR, Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB: C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. In press, The Journal of Clinical Endocrinology & Metabolism. Nov, 2014. Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, and Ware SM: Aortopathy in the 7q11.23 microduplication syndrome. In Press, American Journal of Medical
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