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David D. Weaver, M.D.

Professor Emeritus of Medical and Molecular Genetics

Dr. Weaver received an M.S. in Anatomy and M.D. from the Oregon Health and Science University.   He then completed an internship in Milwaukee County General Hospital.  Dr. Weaver then completed a pediatrics residency at the Oregon Health and Science University, a fellowship in human genetics at the University of Washington School of Medicine in Seattle, and a second fellowship in metabolic diseases, again at the Oregon Health and Science University.

Dr. Weaver is certified in pediatrics by the American Board of Pediatrics and in clinical genetics by the American Board of Medical Genetics.

Dr. Weaver served as Director of Clinical Genetics Services, Department of Medical and Molecular Genetics at the Indiana University School of Medicine from 1976-2005.  He continues to actively provide genetic evaluations and counseling to patients and their families. He is also the medical director of the Indiana University Marfan Syndrome Program, a clinic for those with connective tissue problems.  He also served as the Medical Director of the Masters Genetic Counseling Program from 1991 to 2005 and for 20 years as the course director for the medical student medical genetics course.

In 1992, Dr. Weaver received The Edwin L. Gresham, M.D. Recognition Award from the Indiana Chapter of the American Academy of Pediatrics for advancing the care of newborn infants.  He also received the Indiana University Board of Trustees’ Teaching Award in 2002, and has been included in the Castle Connolly Guide to America’s Top Doctors from 2002-2011.

Dr. Weaver's research interests include investigating the mechanisms producing birth defects, and recognizing and advancing our knowledge of new and currently known genetics syndromes.

PUBLICATIONS

Coppinger, J., McDonald-McGinn, D., Zackai, E., Shane, K., Atkin, J.F., Asamoah, A., Leland, R., Weaver, D.D., Lansky-Shafer, S., Schmidt, K., Feldman, H., Cohen, W., Phalin, J., Powell, B., Blake, C., Ballif, B.C., Theisen, A., Geiger, E., Haldeman-Englert, C., Shaikh,T., Sulagna Saitta, S., Bejjani, B.A., and Shaffer, L.G. (2009):  Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.  Hum. Mol. Genet. 18:1377-1383.

Griffith, C.B., Vance, G.H. and Weaver, D.D. (2009):  Phenotypic variability in trisomy 13 mosaicism: Two new cases and literature review.  Amer. J. Med. Genet. Part A 149A:1346-1358.

Weaver, D.D., Solomon, B.D., Akin-Samson, K., Kelley, R.I. and Muenke, M. (2010):  Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome – first reported case and consideration of mechanism.  Amer. J. Med. Genet. Part C. Semin. Med. Genet. 154C:142-145.

McGill AK, Pastore MT, Herman GE, Alliman S, Rosenfeld JA and Weaver DD. (2010).  A tale of two deletions: A report of two novel 20p13?pter deletions.  Amer. J. Med. Genet. Part A 152A:1000-1007.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King M-C, Shaffer LG and Eichler EE.  (2010).  A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.  Nat. Genet. 42:203-210.

Mark PR, Torres-Martinez T, Lachman RS and Weaver DD. (2011).  Association of a p.pro786leu variant in COL2a1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.  Amer J Med Genet Part A. 155:174-179.

Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Chun-Hui Tsai A, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD and Shaffer LG. (2011).  Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.   Europ J Hum Genet. 19:547-554.

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