Fabiola Quintero-Rivera

Title(s)Clinical Professor, Pathology
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 456-6936
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    1. Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities. Res Sq. 2023 Sep 11. Pannunzio N, Rangel V, Sterrenberg J, Garawi A, Mezcord V, Folkerts M, Caulderon S, Wang J, Soyfer E, Eng O, Valerin J, Tanjasiri S, Quintero-Rivera F, Masri S, Seldin M, Frock R, Fleischman A. PMID: 37790327; PMCID: PMC10543404.
      View in: PubMed   Mentions:
    2. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn. 2023 Aug 26. Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. PMID: 37632214.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 06; 25(6):100812. Matalon DR, Zepeda-Mendoza CJ, Aarabi M, Brown K, Fullerton SM, Kaur S, Quintero-Rivera F, Vatta M, ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committ. PMID: 37058144.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation. BMC Med Genomics. 2023 03 29; 16(1):65. Fan J, Senaratne TN, Liu JY, Bina M, Martinez-Agosto JA, Quintero-Rivera F, Wang JJ. PMID: 36991446; PMCID: PMC10061865.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes (Basel). 2023 03 08; 14(3). Columbres RCA, Chin Y, Pratti S, Quinn C, Gonzalez-Cuyar LF, Weiss M, Quintero-Rivera F, Kimonis V. PMID: 36980948; PMCID: PMC10048343.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    6. 2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics. Genet Med. 2022 10; 24(10):2167-2179. Massingham LJ, Nuñez S, Bernstein JA, Gardner DP, Parikh AS, Strovel ET, Quintero-Rivera F, Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medi. PMID: 36040446.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. J Mol Med (Berl). 2021 11; 99(11):1623-1638. Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. PMID: 34387706; PMCID: PMC8541947.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    8. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome. Am J Med Genet A. 2021 10; 185(10):3042-3047. Lin I, Afshar Y, Goldstein J, Grossman J, Grody WW, Quintero-Rivera F. PMID: 34196458.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    9. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 05 21; 13(1):90. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. PMID: 34020708; PMCID: PMC8140440.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    10. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954; PMCID: PMC8631250.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    11. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Am J Med Genet A. 2021 05; 185(5):1519-1524. Eno CC, Graakjaer J, Svaneby D, Nizon M, Kianmahd J, Signer R, Martinez-Agosto JA, Quintero-Rivera F. PMID: 33634591.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    12. 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. Hum Genet. 2021 Apr; 140(4):681-690. Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA. PMID: 33389145; PMCID: PMC8733961.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    13. Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization. Am J Med Genet A. 2021 03; 185(3):894-900. Kopp N, Amarillo I, Martinez-Agosto J, Quintero-Rivera F. PMID: 33369065.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    14. Diversity, inclusion and equity in medical genetics: The time is now. Am J Med Genet A. 2020 12; 182(12):2817-2819. Quintero-Rivera F, Hisama FM. PMID: 33010189; PMCID: PMC7733726.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Trisomy 3, a sole recurrent cytogenetic abnormality in pediatric polymorphic post-transplant lymphoproliferative disorder (PTLD). Cancer Genet. 2020 10; 248-249:39-48. Shestakova A, Grove N, Said J, Song S, Quintero-Rivera F. PMID: 33065430.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    16. The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service. Autism Res. 2020 09; 13(9):1450-1464. Besterman AD, Sadik J, Enenbach MJ, Quintero-Rivera F, DeAntonio M, Martinez-Agosto JA. PMID: 32662193.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    17. Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition. J Mol Med (Berl). 2020 07; 98(7):1009-1020. Zhao Y, Kang X, Barsegian A, He J, Guzman A, Lau RP, Biniwale R, Wadhra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Grody WW, UCLA Congenital Heart Defects BioCore Faculty, Van Arsdell G, Nelson SF, Touma M. PMID: 32533200; PMCID: PMC7843236.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    18. Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. Am J Hum Genet. 2020 06 04; 106(6):872-884. Melo US, Schöpflin R, Acuna-Hidalgo R, Mensah MA, Fischer-Zirnsak B, Holtgrewe M, Klever MK, Türkmen S, Heinrich V, Pluym ID, Matoso E, Bernardo de Sousa S, Louro P, Hülsemann W, Cohen M, Dufke A, Latos-Bielenska A, Vingron M, Kalscheuer V, Quintero-Rivera F, Spielmann M, Mundlos S. PMID: 32470376; PMCID: PMC7273525.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansCells
    19. Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot. J Mol Med (Berl). 2019 12; 97(12):1711-1722. Zhao Y, Kang X, Gao F, Guzman A, Lau RP, Biniwale R, Wadehra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Van Arsdell G, Coppola G, Nelson SF, Touma M, UCLA Congenital Heart Defects BioCore Faculty. PMID: 31834445; PMCID: PMC7942233.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    20. 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 Genet. 2018 12; 228-229:197-217. 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, Quintero-Rivera F, Greipp PT, Slovak ML, Iqbal MA, Fang M. PMID: 30377088.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    21. Assessing copy number abnormalities 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 Genet. 2018 12; 228-229:218-235. Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. PMID: 30344013.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    22. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. Am J Med Genet A. 2018 12; 176(12):2829-2834. Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. PMID: 30244526.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    23. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36. 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. PMID: 28260531; PMCID: PMC5338099.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    24. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033. Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC. PMID: 27745839; PMCID: PMC5097935.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    25. Triple Hit Lymphoma: Rare Cases With Less Dire Than Usual Prognosis. Int J Surg Pathol. 2016 Dec; 24(8):709-714. Kallen ME, Alexanian S, Said J, Quintero-Rivera F. PMID: 27363433.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    26. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54. 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, Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA. PMID: 26507355; PMCID: PMC5512564.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    27. 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. 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. PMID: 25944381; PMCID: PMC4613469.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    28. 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 05; 96(3):498-506. 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. PMID: 25728775; PMCID: PMC4375619.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    29. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89. 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. PMID: 25574029; PMCID: PMC4380077.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansAnimals
    30. Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion. Gene. 2015 Feb 10; 556(2):249-53. Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F. PMID: 25434494.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    31. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. 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. PMID: 25326637; PMCID: PMC4278636.
      View in: PubMed   Mentions: 464     Fields:    Translation:Humans
    32. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. PMID: 25133958; PMCID: PMC4324730.
      View in: PubMed   Mentions: 116     Fields:    Translation:Humans
    33. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. Am J Med Genet A. 2014 Dec; 164A(12):3076-82. Quintero-Rivera F, Woo JS, Bomberg EM, Wallace WD, Peredo J, Dipple KM. PMID: 25256560.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    34. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014 May 01; 15:49. 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. PMID: 24886118; PMCID: PMC4072606.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    35. Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. Eur J Med Genet. 2014 May-Jun; 57(6):267-8. Ji J, Salamon N, Quintero-Rivera F. PMID: 24657733.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    36. 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 Jun 01; 23(11):2888-900. 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. PMID: 24403048; PMCID: PMC4014191.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    37. Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. Gene. 2013 Oct 15; 529(1):65-8. López-Uriarte A, Quintero-Rivera F, de la Fuente Cortez B, Puente VG, Campos Mdel R, de Villarreal LE. PMID: 23895799.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    38. Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. Am J Med Genet A. 2013 Aug; 161A(8):1985-91. Quintero-Rivera F, Martinez-Agosto JA. PMID: 23794175.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    39. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. Am J Med Genet A. 2013 Jul; 161A(7):1773-8. Bui PH, Dorrani N, Wong D, Perens G, Dipple KM, Quintero-Rivera F. PMID: 23696469.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    40. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet A. 2013 May; 161A(5):1167-72. Amarillo IE, Dipple KM, Quintero-Rivera F. PMID: 23532965.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    41. Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. Cleft Palate Craniofac J. 2013 Sep; 50(5):618-22. Peredo J, Quintero-Rivera F, Bradley JP, Tu M, Dipple KM. PMID: 22449124.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    42. Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. Case Rep Genet. 2011; 2011:131768. Kohannim O, Peredo J, Dipple KM, Quintero-Rivera F. PMID: 23074670; PMCID: PMC3447257.
      View in: PubMed   Mentions: 1  
    43. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet A. 2011 Nov; 155A(11):2871-8. Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. PMID: 21994138.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    44. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011 Jul; 13(7):680-5. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. PMID: 21681106.
      View in: PubMed   Mentions: 378     Fields:    Translation:Humans
    45. B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis. Pediatr Blood Cancer. 2011 Mar; 56(3):470-3. Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto JA, Fu C, Gomperts BN. PMID: 21225931.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    46. Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. J Paediatr Child Health. 2010 Nov; 46(11):693-5. Quintero-Rivera F, Martinez-Agosto JA. PMID: 20163525.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    47. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Am J Med Genet A. 2010 Oct; 152A(10):2459-67. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. PMID: 20830797.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    48. 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. Mol Genet Metab. 2010 Dec; 101(4):413-6. Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD. PMID: 20817516.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    49. FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma. Cancer Genet Cytogenet. 2009 Nov; 195(1):92-3. Quintero-Rivera F, El-Sabbagh Badr R, Rao PN. PMID: 19837276.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    50. Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant. Pediatr Hematol Oncol. 2009 Sep; 26(6):426-31. Quintero-Rivera F, Abreu-E-Lima P, Zhang IH, Parast MM. PMID: 19657992.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    51. Frequency of 5'IGH deletions in B-cell chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2009 Apr 01; 190(1):33-9. Quintero-Rivera F, Nooraie F, Rao PN. PMID: 19264231.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    52. 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? Am J Med Genet A. 2008 Sep 01; 146A(17):2284-90. Mulatinho M, Llerena J, Leren TP, Rao PN, Quintero-Rivera F. PMID: 18680192.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    53. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22. Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. PMID: 18319076; PMCID: PMC2427206.
      View in: PubMed   Mentions: 57     Fields:    Translation:Humans
    54. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am J Med Genet A. 2007 Aug 01; 143A(15):1796-8. Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ. PMID: 17568424.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    55. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. PMID: 17530927; PMCID: PMC1877820.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    56. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Am J Med Genet A. 2007 Mar 15; 143A(6):558-63. Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH. PMID: 17304550.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    57. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. PMID: 17357069; PMCID: PMC1852714.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansAnimalsCells
    58. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006 Oct; 26(10):966-72. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. PMID: 16906598.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    59. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A. 2006 Jun 15; 140(12):1337-8. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis VE. PMID: 16691624.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
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