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Martinez-Agosto Julian

TitleAssistant Professor
InstitutionUniversity of California Los Angeles
DepartmentHuman Genetics
Address695 Charles E. Young Dr. South
Gonda 4554
Los Angeles CA 90095
Phone(310) 794-2405
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    TitleAssistant Professor

    TitleAssistant Professor

    TitleAssistant Professor


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto J. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 Dec; 19(12). PMID: 28933790.
      View in: PubMed
    2. Keppler-Noreuil KM, Martinez-Agosto J, Hudgins L, Carey JC. 37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting. Am J Med Genet A. 2017 May 24; 2007-2073. PMID: 28544249.
      View in: PubMed
    3. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto J, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC. Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017 May 05. PMID: 28475229.
      View in: PubMed
    4. Ferguson GB, Martinez-Agosto J. The TEAD family transcription factor Scalloped regulates blood progenitor maintenance and proliferation in Drosophila through PDGF/VEGFR receptor (Pvr) signaling. Dev Biol. 2017 05 01; 425(1):21-32. PMID: 28322737.
      View in: PubMed
    5. Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto J. 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. PMID: 28296084.
      View in: PubMed
    6. 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 J, 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 03 06; 18(1):36. PMID: 28260531.
      View in: PubMed
    7. 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, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto J, 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 02; 100(2):343-351. PMID: 28132692.
      View in: PubMed
    8. Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto J. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. Am J Med Genet C Semin Med Genet. 2016 12; 172(4):402-421. PMID: 27860216.
      View in: PubMed
    9. Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto J, Anderson M, Federman N. Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatr Blood Cancer. 2017 Jan; 64(1):100-102. PMID: 27577987.
      View in: PubMed
    10. Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V, Nelson SF, Martinez-Agosto J. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep; 80(3):456-60. PMID: 27422356.
      View in: PubMed
    11. Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto J, Abdenur JE. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab. 2016 09; 119(1-2):91-9. PMID: 27448789.
      View in: PubMed
    12. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto J, 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. PMID: 25944381; PMCID: PMC4613469 [Available on 10/01/16].
    13. Wong DM, Shen Z, Owyang KE, Martinez-Agosto J. Insulin- and warts-dependent regulation of tracheal plasticity modulates systemic larval growth during hypoxia in Drosophila melanogaster. PLoS One. 2014; 9(12):e115297. PMID: 25541690; PMCID: PMC4277339.
    14. Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto J, 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.
      View in: PubMed
    15. 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 J, 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; PMCID: PMC4278636.
    16. Ferguson GB, Martinez-Agosto J. Yorkie and Scalloped signaling regulates Notch-dependent lineage specification during Drosophila hematopoiesis. Curr Biol. 2014 Nov 17; 24(22):2665-72. PMID: 25454586; PMCID: PMC4256154.
    17. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto J. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014 May; 51(5):294-302. PMID: 24676357; PMCID: PMC4429769.
    18. Ferguson GB, Martinez-Agosto J. Kicking it up a Notch for the best in show: Scalloped leads Yorkie into the haematopoietic arena. Fly (Austin). 2014; 8(4):206-17. PMID: 26151599; PMCID: PMC4594362.
    19. Quintero-Rivera F, Martinez-Agosto J. 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. PMID: 23794175.
      View in: PubMed
    20. Dragojlovic-Munther M, Martinez-Agosto J. Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function. Dev Biol. 2013 Dec 15; 384(2):313-30. PMID: 23603494; PMCID: PMC4256155.
    21. Klein S, Sharifi-Hannauer P, Martinez-Agosto J. Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res. 2013 Feb; 6(1):51-6. PMID: 23361946; PMCID: PMC3581311.
    22. Lu AT, Dai X, Martinez-Agosto J, Cantor RM. Support for calcium channel gene defects in autism spectrum disorders. Mol Autism. 2012 Dec 15; 3(1):18. PMID: 23241247; PMCID: PMC3558437.
    23. Chiang J, Martinez-Agosto J. Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway. Cells. 2012 Oct 19; 1(4):886-904. PMID: 24710534; PMCID: PMC3901137.
    24. Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Pediatr Blood Cancer. 2013 Apr; 60(4):570-4. PMID: 23015295; PMCID: PMC4170733.
    25. Dragojlovic-Munther M, Martinez-Agosto J. Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors. Development. 2012 Oct; 139(20):3752-63. PMID: 22951642; PMCID: PMC3445307.
    26. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto J, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. PMID: 22634751.
      View in: PubMed
    27. Klein S, Stroberg A, Ghahremani S, Martinez-Agosto J. Phenotypic progression of skeletal anomalies in CLOVES syndrome. Am J Med Genet A. 2012 Jul; 158A(7):1690-5. PMID: 22628280.
      View in: PubMed
    28. Tieu KS, Tieu RS, Martinez-Agosto J, Sehl ME. Stem cell niche dynamics: from homeostasis to carcinogenesis. Stem Cells Int. 2012; 2012:367567. PMID: 22448171; PMCID: PMC3289927.
    29. Mondal BC, Mukherjee T, Mandal L, Evans CJ, Sinenko SA, Martinez-Agosto J, Banerjee U. Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance. Cell. 2011 Dec 23; 147(7):1589-600. PMID: 22196733; PMCID: PMC4403793.
    30. Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto J, Fu C, Gomperts BN. 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. PMID: 21225931.
      View in: PubMed
    31. Quintero-Rivera F, Martinez-Agosto J. 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. PMID: 20163525.
      View in: PubMed
    32. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto J. 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. PMID: 20830797.
      View in: PubMed
    33. Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto J, Poole S, DiAntonio A, Lloyd VK, Chang HC, Krantz DE, Dell'Angelica EC. Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. Hum Mol Genet. 2010 Mar 01; 19(5):861-78. PMID: 20015953; PMCID: PMC2816613.
    34. Sinenko SA, Mandal L, Martinez-Agosto J, Banerjee U. Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila. Dev Cell. 2009 May; 16(5):756-63. PMID: 19460351; PMCID: PMC2718753.
    35. Bui YK, Renella P, Martinez-Agosto J, Verity A, Madikians A, Alejos JC. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. Pediatr Transplant. 2008 Mar; 12(2):246-50. PMID: 18282207.
      View in: PubMed
    36. Martinez-Agosto J, Mikkola HK, Hartenstein V, Banerjee U. The hematopoietic stem cell and its niche: a comparative view. Genes Dev. 2007 Dec 01; 21(23):3044-60. PMID: 18056420.
      View in: PubMed
    37. Mandal L, Martinez-Agosto J, Evans CJ, Hartenstein V, Banerjee U. A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors. Nature. 2007 Mar 15; 446(7133):320-4. PMID: 17361183; PMCID: PMC2807630.