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. Part A, 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): .

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 microdeletion American journal of medical genetics. Part A, 2011; 155A(11): 2871-8.

Omid Kohannim, Jane Peredo, Katrina M. Dipple, and Fabiola Quintero-Rivera   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; Volume 2011 (2011), Article ID 131768, 5 pages: .
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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.

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, 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.