Fabiola Quintero-Rivera MD, FACMG
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, DYRK1A), 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 Genomics (ABMGG) and the American Society for Clinical Pathology. In 2007, Dr. Quintero-Rivera joined the University of California, Los Angeles (UCLA). She was given accelerated promotions to Associate Professor Step 1 and Step 3, in 2012 and 2015, respectively, 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 and UCLA Clinical Genomics Center. In addition, Dr. Quintero-Rivera has participated in the development of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (CNVs) detected by microarray. She is part of the Genomic Data board for interpretation and reporting of clinical exome sequencing for diagnosis of Mendelian Disorders. She has received several awards including the American Association of Medical Colleges (AAMC) Faculty Career Development award at UCLA, and the Outstanding Alumni Award presented during the 230-year Anniversary of her Alma Mater, School of Medicine Universidad de Antioquia, Medellin, Colombia. She is active in the education of fellows, residents, medical students and technologists, and also is a faculty member of the UCLA Molecular Pathology and the Hematopathology Fellowship training programs. In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA, and she is the current Director, ABMGG Cytogenetics Fellowship Training at UCLA. In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA, and she is the current Director, ABMGG Cytogenetics Fellowship Training at UCLA. The Associate Program Director of the Laboratory Genomics and Genetics (LGG) fellowship, and the Director of the Medical Genetic course for fellows enrolled in the UCLA Intercampus Medical Genetics Program.
Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, Bryke C, Huxley E, Lennon PA, Raca G, Xu X, Jeffries S, Slovak M, Shetty S, Iqbal MA, Fang M, Lennon P, Dixon-McIver A, Xu X, Huxley E, Raca G, Tucker T, Bryke C, Yenamandra A, Jeffries S, Quintero-Rivera F, Greipp PT, Iqbal A, Fang M. Assessing Copy Number Aberrations and Copy Neutral Loss of Heterozygosity Across the Genome as Best Practice: An Evidence Based Review of Clinical Utility from the Cancer Genomics Consortium (CGC) Working Group for Myelodysplastic Syndrome, Myelodysplastic/Myeloproliferative and Myeloproliferative Neoplasms. Cancer Genetics2018 Dec;228-229:197-217. doi: 10.1016/j.cancergen.2018.07.003. Epub 2018 Oct 10. Review. PMID: 30377088. Abstract here.
Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-McIver A, Fang M, Griepp P, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. Assessing Copy Number Aberrations and Copy-Neutral Loss-of-Heterozygosity Across the Genome as Best Practice in Diagnostic Evaluation of Acute Myeloid Leukemia: An Evidence-Based Review from the Cancer Genomics Consortium (CGC) Myeloid Neoplasms Working Group. Cancer Genetics. 2018 Dec;228-229:218-235. doi: 10.1016/j.cancergen.2018.07.005. Epub 2018 Oct 6. Review. PMID: 30344013. Abstract here.
Datkhaeva I, Arboleda VA, Senaratne N, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. Prenatal Exome Sequencing for Hydrops Fetalis: A case report of novel variants in PIEZO1 and review of the literature. Am J Med Genet A. 2018 Dec;176(12):2829-2834. doi: 10.1002/ajmg.a.40533. Epub 2018 Sep 23. PMID: 30244526. Abstract here.
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K; UCLA Clinical Genomics Center, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017 May;173(5):1319-1327. Epub 2017 Mar 11. PMID: 28296084. Abstract here.
Mullegama SV, Jensik P, Li C, Dorrani N; UCLA Clinical Genomics Center, Kantarci S, Blumberg B, Grody WW, Strom SP. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Clin Case Rep. 2017 Apr 18;5(6):833-840. PMID: 28588821. Abstract here.
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6. PMID:28260531. Abstract here.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center.; Undiagnosed Diseases Network., Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. PMID:28132692. Abstract here.
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin C, Collins R, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall B, Gerrol P, Hayden M, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Quintero-Rivera F, Speigel E, Stevens B, Ulm J, Warburton D, Wilkins-Haug L, Yachelevich N, Gusella J, Talkowski M, Morton CC. Structural Chromosome Rearrangements Require Nucleotide Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Oct 5. pii: S0002-9297(16)30381-0. doi: 10.1016/j.ajhg.2016.08.022. [Epub ahead of print]. PMID: 27745839. Abstract here.
Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V; UCLA Clinical Genomics Center, Nelson SF, Martinez-Agosto JA. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep;80(3):456-60. Epub 2016 Aug 4.PMID: 27422356. Abstract here.
Kallen M.E., Alexanian S, Said J, Quintero-Rivera F. Triple Hit Lymphoma: Rare Cases with Less Dire than Usual Prognosis. Int J Surg Pathol. 2016 Dec;24(8):709-714. Epub 2016 Jun 29. PMID: 27363433. Abstract here.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE, Boycott KM, Lines MA. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-154. doi: 10.1002/humu.22924. Epub 2015 Nov 19. PMID: 26507355. Abstract here.
Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. PMID: 25944381. Abstract here.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. PMID: 25728775. Abstract here.
Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F. Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. Gene 2015 Feb 10; 556(2):249-53. PMID: 25434494. Abstract here.
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human Molecular Genetics. 2015 Jan 7 [Epub ahead of print] PMID:25574029. Abstract here.
Quintero-Rivera F, Woo JS, Bomberg EM, Wallace WD, Peredo J, Dipple KM. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. American Journal of medical Genetics. 2014 Dec; 164A (12):3076-82. doi: 10.1002/ajmg.a.36767. Epub 2014 Sep 24. PMID:25256560. Abstract here.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014 Nov 12; 312(18):1880-7. PMID 25326637. Abstract here.
Fogel, B, Lee, H, Deignan, J, Strom, S, Kantarci, S, Wang, X, Quintero-Rivera, F, Vilain, E, Grody, W, Perlman, S, Geschwind, D, Nelson, S. Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia. JAMA Neurology. JAMA Neurol. 2014 Aug 18. doi: 10.1001/jamaneurol.2014.1944 [Epub ahead of print] PMID:25133958. Abstract here.
Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Medical Genetics. 2014May 1; 15:49. [Epub ahead of print] PMID: 24886118. Abstract here.
Ji J, Salamon N, Quintero-Rivera F. Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. European Journal of Medical Genetics: 2014 57(6):267-268. PMID: 24657733. Abstract here.
Brezo J, Lam C, Vilain E, Quintero-Rivera F. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. American Journal of Medical Genetics. 2014. 164A (6):1512 -1519. MS 13-0943. PMID: 24715709. 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.