To see if Colette P. DeFilippo is accepting new patients, or for assistance finding a UC Davis doctor, please call 800-2-UCDAVIS (800-282-3284).
Cleft and Craniofacial Disorders
Colette's primary aims are to collaborate with families to help them understand their genetic information, address their concerns and questions, and to enable them to make informed decisions about their health. Colette enjoys providing education on genetic conditions, connecting families to resources such as disorder oriented support groups or registries, up to date medical literature, and clinical trials or research groups.
Colette is a licensed and board certified genetic counselor in the Division of Genomic Medicine who enjoys working with pediatric and adult patients, as well as their families, who are at risk for or have been diagnosed with a genetic condition. Colette is the clinic coordinator for the NF/Ras Pathway clinic, the lead genetic counselor and clinic coordinator of the Cardiovascular Genomics clinic, and provides comprehensive genetic counseling services in the General Genomics and Cleft/Craniofacial clinics.
B.S., Psychology with a focus in Biopsychology and minor in Biology, California Polytechnic State University, San Luis Obispo CA 2010
M.S., Genetic Counseling, Northwestern University, Chicago IL 2015
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 Apr;21(4):867-876. doi:10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765. PMID:30190611.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi:10.1002/humu.23400. Epub 2018 Jan 25. PMID:29330883.
Reuter CM, Brimble E, DeFilippo C, Dries AM; Undiagnosed Diseases Network, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT. A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. J Pediatr. 2018 May;196:291-297.e2. doi:10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11. PMID:29331327.
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome. Pediatric Neurology. 2022;126(2022):65-73. doi:10.1016/j.pediatrneurol.2021.10.008.