PUBLICATIONS (BOOKS AND BOOK CHAPTERS): 1. Phelan, M. C.: Twins, in Human Malformations and Related Anomalies, Vol II, R. E. Stevenson and J. G. Hall, eds, Oxford University Press, New York, 1993, pp 1047-1079. 2.

Phelan, M. C., Babb, J. A.: Laboratory Safety, in The Cytogenetics Symposia, 1994, B. J. Kaplan and D. S. Dale, eds, The Association of Cytogenetic Technologists, Burbank, CA, 1994, pp x1-x8.

3. Sweet, K. M., Phelan, M. C., Tarleton, J. C., Crawford, E. C., Christensen, B., Schroer, R. J., Taylor, H. A.: Counseling Aids for Geneticists, Jacobs Press, Clinton, SC, 1995. 4. Saul, R. A., Geer, J. S., Seaver, L. H., Phelan, M. C., Sweet, K.M., Mills, C. M.: Growth References: Third Trimester to Adulthood, Keys Printing, Greenville, SC, 1998. 5. Phelan, M.C., Stapleton, G.A., Rogers, R.C.: 22q13 deletion syndrome, in Management of Genetic Syndromes, Second Edition, Cassidy. S.B., Allanson J.E., eds, John Wiley & Sons, Hoboken, NJ, 2005. 6. Phelan, M.C., Jarrett S.T: Laboratory Safety, in The Cytogenetics Symposia 2nd Edition, B. Dunn, M. Keagle, P. Luplow, eds, The Association of Genetic Technologists, Lenexa, KS, 2005. 7. Phelan, M.C.: Mechanisms of Chromosome Abnormalities, in The Cytogenetics Symposia 2nd Edition, B. Dunn, M. Keagle, P. Luplow, eds, The Association of Genetic Technologists, Lenexa, KS, 2005. 8. Phelan, M. C., Hall, JG: Twins, in Human Malformations and Related Anomalies, Vol II, 2nd edition, R. E. Stevenson and J. G. Hall, eds, Oxford University Press, New York, 2006. 9. Phelan, M. C.: Techniques for mammalian cell tissue culture, in Current Protocols in Human Genetics, N. C. Dracapoli, J. L. Haines, B. R. Korf, D. T. Moir, C. C. Morton, C. E. Seidman, J. G. Seidman, D. R. Smith, eds, John Wiley & Sons, New York, original 1994; (revised biennially) latest revision 2006; Supplement pp A.3G.1-A.3G.15. 10. Phelan, M. C.: Techniques for mammalian cell tissue culture, in Current Protocols in Molecular Biology, F. M. Ausubel, R. Brent, R. E. Kingston, D. M. Moore, J. G. Seidman, J. A. Smith, K. Struhl, eds, John Wiley & Sons, New York, 1996; (revised biennially) latest revision 2006; Supplement 35 CPMB, Appendices A.3F1-A.3F.14. 11. Phelan, M. C.: Techniques for mammalian cell tissue culture, in Current Protocols in Protein Science, J. Coligan, B. Dunn, H. Ploegh, D. Speicher, P. Wingfield, eds, John Wiley & Sons, New York, 1997; (revised biennially) latest revision 2007; Appendices A.3C.1-15. 12. Phelan, M. C. and Lawler, G.: Cell counting, in Current Protocols in Cytometry, J. P. Robinson, Z. Darzynkiewicz, P. N. Dean, L. Dressler, P. S. Rabonovich, C. C. Stewart, H. J,

Tanke, L. Wheeless, eds., John Wiley & Sons, New York, 1997; (revised biennially) latest revision 2007; Appendices A.3A.1-A.3A.4. 13. Phelan, M.C.: Techniques for mammalian cell tissue culture, in Current Protocols in Cytometry, J. P. Robinson, Z. Darzynkiewicz, .P. N. Dean, l. Dressler, P. S. Rabonovich, C. C. Stewart, H. J. Tanke, L. Wheeless, eds., John Wiley & Sons, New York, 1997; (revised biennially) latest revision 2007; Appendices A.3B.1-A.3B.10. 14. Phelan, M.C.: Techniques for Mammalian Cell Culture, in Current Protocols in Toxicology, Maines, M. D., Costa, L.G., Reed, D.J., Sassa, S., Sipes, I.G., eds, John Wiley & Sons, New York, 1999; (revised biennially) latest revision 2007; Appendices A:3B.1-A.3B.14. 15. Phelan, M.C.: Basic Techniques for Mammalian Cell Tissue Culture, in Current Protocols in Cell Biology, Maines, M. D., Costa, L.G., Reed, D.J., Sassa, S., Sipes, I.G., eds, John Wiley & Sons, New York, 2007.Suppl 36 Unit 1.1.1-1.1.18. 16. Phelan, M.C.: Techniques for Mammalian Cell Tissue Culture, in Current Protocols in Neuroscience, Maines, M. D., Costa, L.G., Reed, D.J., Sassa, S., Sipes, I.G., eds, John Wiley & Sons, New York, 2007. Appendices A.3B.1-A.3B.14. 17. Phelan, M.C., Stapleton, G.A., Rogers, R.C.: Deletion 22q13 syndrome: Phelan-McDermid Syndrome, in Management of Genetic Syndromes, Third Edition, Cassidy. S.B., Allanson J.E., eds, John Wiley & Sons, Hoboken, NJ, 2010.

PUBLICATIONS (JOURNALS): 1. Phelan, M. C., Nance, W. E., and Corey, L. A.: Determinants of ridge count in MZ twin kinships. Acta Genet Med Gemellol 30:59-66, 1981. 2. Phelan, M. C., Pellock, J. M., and Nance, W. E.: Discordant expression of fetal hydrantoin syndrome in heteropaternal dizygotic twins. New Eng J. Med 307:99-101, 1982. 3. Gusella, J. F., Tanzi, R. E., Bader, P. I., Phelan, M.. C., Stevenson, R. E., Hayden, M. R., Hofman, K. J., Faryniarz, A. G., and Gibbons, K.: Deletion of Huntington’s diseaselinked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 317:75, 1985. 4. Stevenson, R. E., Jones, K. L., Phelan, M. C., Jones, M. C., Barr, M., Clericuzio, C., Harley, R. R., and Benirschke, K.: Vascular steal: The pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatr 78:451, 1986. 5. Stevenson, R. E., Kelly, J. C., Aylsworth, A. S., and Phelan, M. C.: Vascular basis for neural tube defects: An hypothesis. Pediatr 80:102-106, 1987.

6. Schwartz, C. E., Fitch, N., Phelan, M. C., Richer, C. L., and Stevenson, R. E.: Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Human Genet 76:54-57, 1987. 7. Phelan, M. C., Stevenson, R. E., Collins, J. L., and Trent, H. E. III: Fragile X syndrome and neoplasia. Am J Med Genet 30:77-82, 1988. 8. Schwartz, C. E., Phelan, M. C., Brightharp, C., Pancoast, I., Howard-Peebles, P.N., Thibodeau, S., Brown, W. T., and Jenkins, E. C.: Fragile X syndrome: linkage analysis in black and white populations. Am J Med Genet 30:531-542, 1988. 9. Schwartz, C. E., Phelan, M. C., Pulliam, L. H., Wilkes, G., Vanner, L. V., Albiez, K. L., Potts, W. A., Rogers, R. C., Schroer, R. J., Saul, R. A., Prouty, L. A., Dean, J. H., Taylor, H. A., and Stevenson, R. E.: Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. Am J Med Genet 30:641654, 1988 10. Phelan, M. C., Prouty, L. A., Stevenson, R. E., Howard-Peebles, P. N., Page, D. C., and Schwartz, C. E.: The parental origin and mechanism of formation of three dicentric X chromosomes. Hum Genet 80:81-84, 1988. 11. Phelan, M. C., Morton, C. C., Stevenson, R. E., Tanzi, R. E., Stewart, G. E., Watkins, P. C., Gusella, J. F., and Amos, J. A.: Molecular and cytogenetic characterization of a de novo t(5p;21q). Am J Hum Genet 43:511-519, 1988. 12. Schwartz, C. E., Johnson, J. P., Holycross, B., Mandeville, T. M., Sears, T. S., Graul, E. A., Carey, J. C., Schroer, R. J., Phelan, M. C., Stollas, J., Flannery, D. B., and Stevenson, R. E.: Detection of submicroscopic deletions in band 17p13 in patients with the MillerDieker syndrome. Am J Hum Genet c43:597-604, 1988. 13. Phelan, M. C., Schroer, R. J., and Krug, E. F.: Paracentric inversion of chromosome 19 in three generations. Am J Med Genet 34:525-527, 1989. 14. Sauer, S. M., Phelan, M. C., Richer, C. L., and Schwartz, C. E.: Physical mapping of probes proximal to the fragile X locus (FRAX) confirms the order F9-DXS105(cX55.7)DXS98(4D8)-FRAXA. Cytogenet Cell Genet 50:172-173, 1989. 15. Schwartz, C. E., Stanislovitis, P., Phelan, M. C., Klinger, K., Taylor, H. A., and Stevenson, R. E.: Deletion mapping of Plasminogen Activator Inhibitor, Type I (PLANHI) and -glucoronidase (GU5J) in 7q21q22. Cytogenet Cell Genet. 56:152153, 1991. 16. Phelan, M. C., Thomas, G. R., Saul, R. A., Rogers, R. C., Taylor, H. A., Wenger, D. A., and McDermid, H. E.: Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 43:872-876, 1992.

17. Phelan, M. C., Stevenson, R. E., and Anderson, E. V.: Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop. Am J Med Genet 46:304-308, 1993. 18. Feldman, G. L., Weiss, L., Phelan, M. C., Schroer, R. J., Van Dyke, D. L.: Inverted duplication of chromosome 8p: report of nine patients and review of the literature. Am J Med Genet 47:482-486, 1993. 19. McConkie-Rosell, A., Lachiewicz, A. M., Spiridigliozzi, G. A., Tarleton, J., Schoenwald, S., Phelan, M. C., Goonewardena, P., Ding, X., Brown, W. T.: Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the Fragile X syndrome. Am J Hum Genet 53:800-809, 1993. 20. Saul, R. A., Rogers, R. C., Phelan, M. C., Stevenson, R. E.: Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. Am J Med Genet 47:999-1002, 1993. 21. Shapiro, L. R., Simensen, R. J., Wilmot, P. L., Fisch, G. S., Vibert, B. K., Fenwick, R. G., Tarleton, J., and Phelan, M. C.: Asymmetry of methylation with FMR-a full mutation in two 45,X/45,XX mosaic females associated with normal intellect. Am J Med Genet 51:507-508, 1994. 22. Marinoni, J. C., Stevenson, R. E., Evans, J. P., Geshuri, D., Phelan, M. C., and Schwartz, C. E.: Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet 47:90-95, 1995. 23. Phelan, M. C., Saul, R. A., Gailey, T. A., Jr., Skinner, S. A.: Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21, Prenatal Diagnosis 15:274-277, 1995. 24. Michaelis, R. C., Skinner, S. A., Lethco, B. A., Simensen, R. J., Donlon, T. A., Tarleton, J. C., Phelan, M. C.: Deletion Involving D15S113 in a mother and son without Angelman syndrome: refinement of the angelman syndrome critical deletion region. Am J Med Genet 55:120-136, 1995. 25. Pettenati, M. J., Rao, P. N., Phelan, M. C., Grass, F., Rao, K. W., Cosper, P., Carroll, A. J., Elder, F., Smith, L., Higgins, M. D., Lanman, J. T., Higgins, R. R., Butler, M. G., Luthardt, F., Keitges, E., Jackson-Cook, C., Brown, J., Schwartz, S., Van Dyke, D. L., Palmer, C. G.: Paracentric inversions in man: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet 55:171-187, 1995. 26. Phelan, M. C., Rogers, R. C., Clarkson, K. B., Bowyer, F. P., Levine, M. A., Estabrooks, L. L., Severson, M. C., Dobyns, W. B.: Albright Hereditary Osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 58:1-7, 1995.

27. Brown, A., Phelan, M. C., Patil, S., Crawford, E., Rogers, C., Schwartz,C.: Two patients with duplication for 17p11.2: the reciprocal of the Smith-Magenis Syndrome deletion? Am J Med Genet 63:373-377, 1996 28. Michaelis, R. C., Skinner, S. A., Deason, R., Skinner, C., Moore, C. L., Phelan, M. C.: Interstitial deletion of 10p: new candidate region for Hirschsprung disease and autism. Am J Med Genet 71:298-304, 1997. 29. Willi, S. M., Zhang, Y., Hill, J. B., Phelan, M. C., Michaelis, R. C., Holden, K. R.: A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr Res 41:210-213, 1997. 30. Schrock, E., Veldman, T., Padilla-Nash, H., Ning, Y., Spurbeck, J., Jalal, S., Shaffer, L. G., Papenhausen, P., Kozma, C., Phelan, M. C., Kjeldsen, E., Schonberg, S. A., O’Brien, P., Biesecker, L., duManoir, S., and Reid, T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101:255-262, 1997 31. Michaelis, R. C., Velagaleti, G. V. N., Jones, C., Pivnick, E. K., Phelan, M. C., Boyd, E., Tarleton, J., Wilroy, R. S., Tunnaclifte, A., and Tharapel, A. T.: Most Jacobsen syndrome deletion breakpoints occur distal to FRA11. Am J Med Genet 76:222-228, 1998. 32. Phelan, M. C., Blackburn, W., Rogers, R. C., Crawford, E. C., Cooley, N. R., Jr., Schrock, E., Niny, Y., and Reid, T.: FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14, and 16. Prenat Diagn 18:1174-1180, 1998. 33. Phelan, M. C., Geer, J. S., and Blackburn, W. R.: Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy. Clin Genet 53:126-130, 1998. 34. Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A., Cuccaro, M., Simensen, R. J., Bishop, J., Skinner, C., Fender, D., and Stevenson, R. E.: Autism and maternally derived aberrations of chromosome 15. Am J Med Genet 76:327-336, 1998. 35. Glenn, C.C., Deng, G., Michaelis, R.C., Tarleton, J., Phelan, M.C., Surh, L., Yang, T.P., Driscoll, D.J.: DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn 20:300-306, 2000. 36. Jarrett, K. L., Michaelis, R. C., Phelan, M.C., Vincent, V. A., Best, R.G.: Microsatellite analysis reveals a high incidence of maternal cell contamination in products of conception with 46,XX karyotypes. Am J Obstet Gynecol 185:198-203, 2001.

37. Phelan, M.C., Rogers, R.C., Saul, R.A., Stapleton, G.A., Sweet, K., McDermid, H., Shaw, S.R., Claytor, J., Willis, J., Kelly, D.P.: A review of the 22q13 deletion syndrome. Am J Med Genet 101:91-99, 2001. 38. Phelan, M.C., Rogers, R.C., Michaelis, R.C., Moore, C.L., Blackburn W.: Prenatal diagnosis of mosaicism for triploidy and trisomy 13. Prenat Diagn 21:457-460, 2001. 39. Davids, M.G., Crawford E., Weremowicz S., Morton C, Copeland N.G., Gilbert D. J., Jenkins N. A., Phelan M.C., Comb M. J., Melnick M. B.: Stk25 is a candidate gene for pseudopseudo-hypoparathyroidism (PPHP). Genomics 77:2-4, 2001. 40. Phelan, M.C., Brown E.F., Rogers, R.C.: Prenatal diagnosis of mosaicism for deletion 22q13, Prenat Diagn 21:1100, 2001. 41. Phelan, M.C.: Additional studies warranted to confirm monosomy 21, Prenat Diagn 22:160-161, 2002. 42. Phelan, M.C., Rogers, RC., Crawford, EC., Brown, L.G., Page, D.C.: Velocardiofacial syndrome in an unexplained XX male. Amer J Med Genet 116:77-79, 2003. 43. Wilson, H.L., Wong, A.C.C., Tse, W.-Y., Stapleton, GA, Phelan, M.C., McDermid, H.E.: Molecular characterization of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 40:575-584, 2003. 44. Phelan, M.C.: Phelan-McDermid syndrome, National Organization for Rare Diseases (NORD) www.rarediseases.org. 2004. 45. Havens, J.M., Visootsak, J., Phelan, M.C., Graham, Jr., J.M.: 22q13 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr, 43:43-54, 2004. 46. Phelan, K: 22q13.3 Deletion Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, 19932007. Oct 25. Available at http://www.genetests.org. 2005, revised 2007. 47. Phelan, K. Letter to the Editor, re: Survey of Candidate Genes for Autism Susceptibility. J Assoc Genet Technol 33(2):58, 2007. 48. Phelan, M.C.: Deletion 22q13 syndrome, Orphanet Database: http:/www.orphanet.infobiogen.fr/. 2003, revised 2008. 49. Ricardo, R. and Phelan, K.: Counting and determining the viability of cultured cells. J Vis Exp. 2008 June 23;(16). pii: 752. doi: 10.3791/752. 50. Ricardo, R. and Phelan, K.: Trypsinizing and subculturing mammalian cells. J Vis Exp. 2008 June 12;(16). pii: 755. doi: 10.3791/755

51. Ricardo, R. and Phelan, K.: Freezing, thawing, and packaging cells for transport. J Vis Exp. 2008 July 2;(17). pii: 757. doi: 10.3791/757. 52. Lee, R.V., Green C.A., Negrea O.G., Dodson S., Farrell S.K., Hewitt J.E., Jago T., Ramsey C.E., Cato T.C., Crawford E.C., Henley D.C., Phelan M.C., Potter N.T.: B-cell lymphoma with intermediate- to high-grade features and different immunophenotypic profiles involving separate anatomic sites with a good response to R-CHOP. Lab Med 40(2):79-86, 2009. 53. Phelan, K., Betancur C.: Clinical Utility Card for: Deletion 22q13 Syndrome. Eur Journal of Hum Genet 2010 Dec 8. Doi:10:1038/ejhg.2010.193. 54. Phelan, K., Rogers C: Phelan-McDermid Syndrome (August 2011) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org. 55. Rollins, J.D, Sarasua, S.M., Phelan, K., DuPont, B.R., Rogers, R.C., Collins, J.S. Growth in Phelan–McDermid syndrome. Am J Med Genet Part A 155:2324–2326. 2011. 56. Sarasua, S.M., Dwivedi, A., Boccuto, L., Rollins, J.D., Chen, C.F., Rogers, R.C., Phelan, K., Dupont, B.R., Collins, J.S:. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet 11:761-766. 2011. 57. Phelan, K., McDermid H.E.: The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol 2(3-5):186-201. 2012. 58. Sarasua SM., Dwivedi, A., Boccuto, L., Chen, C.F., Sharp, J.F., Rollins, J.D., Collins, J.S., Rogers, R.C., Phelan, K., Dupont, B.R.: 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in PhelanMcDermid syndrome. Genet Med. Oct 2013 (2013); doi:10.1038/gim.2013.144.

59. Sarasua SM., Boccuto L, Sharp JL, Dwivedi A, Chen C-F, Rollins JD, Rogers RC, Phelan K, DuPont BR: Clinical and genomic evaluation of 201 patients with PhelanMcDermid syndrome. Hum Genet. Jan 2014. Doi: 10.1007/s00439-014-1423-7.

60. Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE: Letter to the Editor regarding Disciglio et al: Interstitial 22q13 Deletions not Involving SHANK3 Gene: A new Contiguous Gene Syndrome. Am J Med Genet (in press).