Fabiola Quintero-Rivera MD, PhD
UCLA Path & Lab Med
1010 Veteran Avenue
Los Angeles, CA 90095
Associate Professor, Pathology & Laboratory Medicine
Dr. Quintero-Rivera's translational research interests include the genetics of intellectual disability, autism, craniofacial syndromes and cancer cytogenetics with a particular focus in the understanding the genetic etiology of new microdeletion syndromes (i.e. 3q29, OTC, GATA6, NFIA, MATR3), B-cell neoplasm and myeloid malignancies including Myelodysplastic syndromes.
Dr. Quintero-Rivera received her M.D. and training in clinical dysmorphology from University of Antioquia in Medellin, Colombia in 2002, completing her last year of medical schooling on scholarship at Harvard Medical School. After completing her degree, she stayed on at the Center for Human Genetic Research at Massachusetts General Hospital (MGH) and at Harvard Medical School as a Co-Investigator in the Developmental Genome Anatomy Project (DGAP). In 2004, she won a competitive MGH clinical research award for her work on the identification of a gene (NFIA) important for the development of the corpus callosum. That same year, she also joined the Clinical Cytogenetics Fellowship program at Harvard. Dr. Quintero-Rivera is certified by the American Board of Medical Genetics and the American Society for Clinical Pathology. In 2007, Dr. Quintero-Rivera joined the Univeristy of California, Los Angeles (UCLA). In 2012, she was given an accelerated promotion to Associate Professor in the Department of Pathology and Laboratory Medicine at the University, as well as maintaining her position as Associate Director of the UCLA Clinical and Molecular Cytogenetics Laboratory and Director of the UCLA Clinical Cytogeneticists Scientist Training Program. She has also played a key role in the establishment of the UCLA Clinical Microarray core. In addition, Dr. Quintero-Rivera has participated in the development of the American College of Medical Genetics (ACMG) standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (CNVs) detected by microarray. She is part of the UCLA Clinical Genomics Center and the Genomic Data board for interpretation and reporting of clinical exome sequencing for diagnosis of Mendelian Disorders. She has received several awards including the AAMC Faculty Career Development award at UCLA. She is active in the education of fellows, residents, medical students and technologists, and also is a faculty member of the UCLA ABMG Intercampus Medical Genetics, Molecular Pathology and the Hematopathology Fellowship training programs.
Jelena B1, Christina L, Eric V, Fabiola QR. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. Am J Med Genet A. 2014 Jun;164(6):1512-9. doi: 10.1002/ajmg.a.36446. Epub 2014 Apr 8. Abstract here.
Ji J, Salamon N, Quintero-Rivera F. Eur J Med Genet. Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. 2014 Mar 18. pii: S1769-7212(14)00045-7. doi: 10.1016/j.ejmg.2014.03.004. Abstract here.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jan 31. Abstract here.
López-Uriarte A, Quintero-Rivera F, de la Fuente Cortez B, Puente VG, Campos Mdel R, de Villarreal LE. Gene. Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. 2013 Oct 15;529(1):65-8. doi: 10.1016/j.gene.2013.06.056. Epub 2013 Jul 27. Abstract here.
Bui Peter H, Dorrani Naghmeh, Wong Derek, Perens Gregory, Dipple Katrina M, Quintero-Rivera Fabiola First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.. American journal of medical genetics. 2013; 161(7): 1773-8.
Quintero-Rivera Fabiola, Martinez-Agosto Julian A Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.. American journal of medical genetics. Part A.2013; 161(7):
Amarillo Ina E, Dipple Katrina M, Quintero-Rivera Fabiola Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect. American journal of medical genetics. Part A. 2013; 161(5): 1167-72.
Peredo Jane, Quintero-Rivera Fabiola, Bradley James, Tu Marinda, Dipple Katrina M. Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association. 2012; .
Gallant Natalie M, Baldwin Erin, Salamon Noriko, Dipple Katrina M, Quintero-Rivera Fabiola. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletionAmerican journal of medical genetics. Part A. 2011; 155A(11): 2871-8.
Kearney Hutton M, Thorland Erik C, Brown Kerry K, Quintero-Rivera Fabiola, South Sarah T, South Sarah T. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in medicine : official journal of the American College of Medical Genetics. 2011; 13(7): 680-5.
Kohannim Omid, Peredo Jane, Dipple Katrina M, Quintero-Rivera Fabiola. Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. Case reports in genetics. 2011; 2011(5): 131768.
Chang Vivian Y, Quintero-Rivera Fabiola, Baldwin Erin E, Woo Kathy, Martinez-Agosto Julian A, Fu Cecilia, Gomperts Brigitte N. B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.. Pediatric blood & cancer.Pediatric blood & cancer. 2011; 56(3): 470-3.
Quintero-Rivera Fabiola, Deignan Joshua L, Peredo Jane, Grody Wayne W, Crandall Barbara, Sims Maureen, Cederbaum Stephen D. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. Molecular genetics and metabolism. 2010; 101(4): 413-6.
Quintero-Rivera Fabiola, Martinez-Agosto Julian A. Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. Journal of paediatrics and child health. 2010; 46(11): 693-5.
Quintero-Rivera Fabiola, Sharifi-Hannauer Pantea, Martinez-Agosto Julian A. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. American journal of medical genetics. Part A. 2010; 152A(10): 2459-67.
Quintero-Rivera Fabiola, El-Sabbagh Badr Riem, Rao P Nagesh. FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma. Cancer genetics and cytogenetics. 2009; 195(1): 92-3.
Vásquez-Palacio G, Botero-Galeano O,Teknirat.T, Sierra-Sanchez M, Quintero-Rivera F. Cytogenetic Analysis and FISH of terminal deletion of the long arm of Chromosome 9 in a patient with Acute Promyelocytic Leukemia. Medicina Universitaria 2009; 11(4): 193-97.
Quintero-Rivera Fabiola, Abreu-E-Lima Paula, Zhang Inga Hofmann, Parast Mana M. Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant. Pediatric hematology and oncology.2009; 26(6): 426-31.
Quintero-Rivera Fabiola, Nooraie Farzad, Rao P Nagesh. Frequency of 5'IGH deletions in B-cell chronic lymphocytic leukemia. Cancer genetics and cytogenetics. 2009; 190(1): 33-9.
Mulatinho Milene, Llerena Juan, Leren Trond P, Rao P Nagesh, Quintero-Rivera Fabiola. Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? American journal of medical genetics. Part A. 2008; 146A(17): 2284-90.
Higgins Anne W, Alkuraya Fowzan S, Bosco Amy F, Brown Kerry K, Bruns Gail A P, Donovan Diana J, Eisenman Robert, Fan Yanli, Farra Chantal G, Ferguson Heather L, Gusella James F, Harris David J, Herrick Steven R, Kelly Chantal, Kim Hyung-Goo, Kishikawa Shotaro, Korf Bruce R, Kulkarni Shashikant, Lally Eric, Leach Natalia T, Lemyre Emma, Lewis Janine, Ligon Azra H, Lu Weining, Maas Richard L, MacDonald Marcy E, Moore Steven D P, Peters Roxanna E, Quade Bradley J, Quintero-Rivera Fabiola, Saadi Irfan, Shen Yiping, Shendure Jay, Williamson Robin E, Morton Cynthia C. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics 2008; 82(3): 712-22.
Quintero-Rivera Fabiola, Leach Natalia T, de la Chapelle Albert, Gusella James F, Morton Cynthia C, Harris David J. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? American journal of medical genetics. Part A. 2007; 143A(15): 1796-8.
Lu Weining, Quintero-Rivera Fabiola, Fan Yanli, Alkuraya Fowzan S, Donovan Diana J, Xi Qiongchao, Turbe-Doan Annick, Li Qing-Gang, Campbell Craig G, Shanske Alan L, Sherr Elliott H, Ahmad Ayesha, Peters Roxana, Rilliet Benedict, Parvex Paloma, Bassuk Alexander G, Harris David J, Ferguson Heather, Kelly Chantal, Walsh Christopher A, Gronostajski Richard M, Devriendt Koenraad, Higgins Anne, Ligon Azra H, Quade Bradley J, Morton Cynthia C, Gusella James F, Maas Richard L. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS genetics. 2007; 3(5): e80.
Lu Weining, van Eerde Albertien M, Fan Xueping, Quintero-Rivera Fabiola, Kulkarni Shashikant, Ferguson Heather, Kim Hyung-Goo, Fan Yanli, Xi Qiongchao, Li Qing-Gang, Sanlaville Damien, Andrews William, Sundaresan Vasi, Bi Weimin, Yan Jiong, Giltay Jacques C, Wijmenga Cisca, de Jong Tom P V M, Feather Sally A, Woolf Adrian S, Rao Yi, Lupski James R, Eccles Michael R, Quade Bradley J, Gusella James F, Morton Cynthia C, Maas Richard L. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. American journal of human genetics. 2007; 80(4): 616-32.
Quintero-Rivera Fabiola, Chan Alicia, Donovan Diana J, Gusella James F, Ligon Azra H. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. American journal of medical genetics. Part A. 2007; 143(6): 558-63.
Quintero-Rivera Fabiola, Robson Caroline D, Reiss Rosemary E, Levine Deborah, Benson Carol, Mulliken John B, Kimonis Virginia E. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenatal diagnosis 2006; 26(10): 966-72.
Quintero-Rivera Fabiola, Robson Caroline D, Reiss Rosemary E, Levine Deborah, Benson Carol B, Mulliken John B, Kimonis Virginia E. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. American journal of medical genetics. Part A. 2006; 140(12): 1337-8.
Slaugenhaupt Susan A, Mull James, Leyne Maire, Cuajungco Math P, Gill Sandra P, Hims Matthew M, Quintero Fabiola, Axelrod Felicia B, Gusella James F. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Human molecular genetics. 2004; 13(4): 429-36.