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.


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.

Bibb AL, Rosenfeld JA and Weaver DD.  (2011):  Report of a mother and daughter with the 12q14 microdeletion syndrome.  Amer J Med Genet Part A. 158A:417-422.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD and Jones SJM.  Mutations in EZH2 cause Weaver syndrome.  (2011):  Amer J Hum Genet. 90:110-118.

Henson KE, Hines KA, Weaver DD , Torres WM, Verbrugge J , Stone K, and Vance GH.  (2012):  Duplication of 18q21.32-q22.3 Identified in a Stillborn and Two Relatives without Dysmorphic Features.  Amer J Med Genet Part A. 158A:1788-1792.

Zitano L, Loder RT, Cohen MD and Weaver DD.  (2012):  Severe lateral tibial bowing with short stature in two siblings – a possible new syndrome.  Amer J Med Genet Part A. 158A:2309-2316.

Davis ME, Stevens AK and Weaver DD.  (2012): A Case of Multiple Congenital Anomalies Including Unusual Ear Nodules and Finger Contractures: A New Genetic Syndrome?  Clin Dysmoph. 21:218-221.

Hall, AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy M.P, Litton CG and Vance GH. (2013):  Positive cell-free fetal DNA testing for trisomy 13 reveals confined placenta mosaicism. Genet Med. 15:729-732.

Krukenberg, RC, Koller, DL, Weaver, DD, Dickerson, JN, and Quaid, KA. (2013):  Two decades of Huntington disease testing: Patients demographics and reproductive choices. J Genet Counsel. 22:643-653.

Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE and Weaver DD. (2014):  A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?  Amer J Med Genet Part A. 164A:287-290.

Victorine A, Weida J, Weaver DD, Torres W, Hines K and Robinson B.  (2013):  Prenatal diagnosis of Carpenter syndrome:  Looking beyond craniosynostosis and polydactyly.  Amer J Med Genet Part A. 164A:820-823.

McMillin MJ,  Beck AE, Chong J, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey J, Clericuzio CL, Crow YJ, Curry CJ,  Devriendt K, Everman DB, Fryer A, Gibson K, Luisa M, Uzielli G, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IPC, Leroy JG, Mowat D, Plant G, Robertson SP,  Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel S, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics and Bamshad MJ.  2014:  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome and Distal Arthrogryposis Type 5. Am J Hum Genet. 94:734-744.

Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CMB, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR and Lamp DJ. 2014: Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.  PLOS ONE. 9:1-11.

Jackson JL, Delk­ P, Farrow E, Griffith C, Lah M and Weaver DD. 2015:  An infant with large fontanelles, aplasia cutis congenita, Tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome? Am J Med Genet. 167A:683-687.

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L and Desnick RJ. 2015:  Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Am J Med Genet. 167A:1061-1071.

Gordon CT, Weaver  KN,  Madsen E, Tavares ALP, Golzio C, Oufadem M, Kurihara Y6, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue M-A, Guion-Almeida ML,  Padilha Moura PP, Garib DG, Munnich A Ernfors P, Weaver DD16, Kurihara H, Hufnagel BR, Saal HM, Lyonnet S, Katsanis N, Zechi-Ceide RM, Clouthier DE and Amiel J.  2015:  Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Med Hum Genet. 96:519-531.

Hodge K, Spoonamore KG, Griffith CB, Weaver DD, Celestino-Soper PBS, Lynnes TC, Gao H, Liu Y and Vatta M.  2015:  A post-mortem assessment of a 25-year-old man with ascending aortic dissection and a novel MYLK variant. Cardiogenetics in press.

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick R.  2015: Setleis syndrome due to inheritance of the 1p36 duplication: Evidence for lack of penetrance. J Hum Genet. 103:1-6.

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