Birgit H. Funke, PhD
- Phone: 617-768-8467
Assistant Molecular Pathologist,
Director of Clinical Research and Development,
Laboratory for Molecular Medicine,
Partners HealthCare Personalized Medicine
Associate Professor of Pathology
Harvard Medical School
Dr. Funke focuses on genetic testing with emphasis on genetically heterogeneous inherited diseases, with further specialization in cardiomyopathies, myopathies, and congenital cardiovascular malformations. Her main goals are to pave the way for implementing clinical exome sequencing as a universal first-line test, to improve curation of genetic knowledge, and to work towards automation of knowledge-driven decision support for interpreting and reporting genetic test results. In addition, she is interested in facilitating clinical genome-wide reporting for common, complex disorders and pharmacogenetic traits.
- Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010, 55:320-9.
- Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. LAMP2 in patients with Danon disease. Circ Cardiovasc Genet 2010, Vol 3: 129-137.
- Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010; 12: 268-78.
- Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, Levan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Evaluation of Second Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications. J. Mol Diagn. 2010; 12:818-27
- Jordan DM, Kiezun A, Baxter S, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH *, Sunyaev S*. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet 2011, 88:183-92. *Contributed equally.
Laboratory for Molecular Medicine
Massachusetts General Hospital
65 Landsdowne St.
Cambridge, MA 02139