Loading...

Martinez-Agosto Julian

TitleAssistant Professor
InstitutionUniversity of California Los Angeles
DepartmentHuman Genetics
AddressDivision of Medical Genetics
Department of Pediatrics
David Geffen School of Medicin
Los Angeles CA 90095
Phone(310) 794-2405
vCardDownload vCard
    Other Positions
    TitleAssistant Professor

    TitleAssistant Professor

    TitleAssistant Professor


    Collapse Bibliographic 
    Collapse Publications
    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.
    List All   |   Timeline
    1. Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2018 Dec 05. PMID: 30514889.
      View in: PubMed
    2. Mullegama SV, Klein SD, Signer RH, Vilain E, Martinez-Agosto JA. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med. 2018 Nov 16. PMID: 30447054.
      View in: PubMed
    3. 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 JA. 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
    4. Keppler-Noreuil KM, Martinez-Agosto JA, 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
    5. 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 JA, 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
    6. Ferguson GB, Martinez-Agosto JA. 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
    7. Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, 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. PMID: 28296084.
      View in: PubMed
    8. 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 03 06; 18(1):36. PMID: 28260531.
      View in: PubMed
    9. 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 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 02; 100(2):343-351. PMID: 28132692.
      View in: PubMed
    10. Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA. 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
    11. Truscott L, Gell J, Chang VY, Lee H, Strom SP, Pillai R, Sisk A, Martinez-Agosto JA, 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
    12. Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V, Nelson SF, Martinez-Agosto JA. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep; 80(3):456-60. PMID: 27422356.
      View in: PubMed
    13. Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, 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
    14. 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. PMID: 25944381; PMCID: PMC4613469 [Available on 10/01/16].
    15. Wong DM, Shen Z, Owyang KE, Martinez-Agosto JA. 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.
    16. 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.
      View in: PubMed
    17. 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; PMCID: PMC4278636.
    18. Ferguson GB, Martinez-Agosto JA. 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.
    19. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. 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.
    20. Ferguson GB, Martinez-Agosto JA. 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.
    21. Quintero-Rivera F, Martinez-Agosto JA. 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
    22. Dragojlovic-Munther M, Martinez-Agosto JA. 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.
    23. Klein S, Sharifi-Hannauer P, Martinez-Agosto JA. Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res. 2013 Feb; 6(1):51-6. PMID: 23361946; PMCID: PMC3581311.
    24. Lu AT, Dai X, Martinez-Agosto JA, Cantor RM. Support for calcium channel gene defects in autism spectrum disorders. Mol Autism. 2012 Dec 15; 3(1):18. PMID: 23241247; PMCID: PMC3558437.
    25. Chiang J, Martinez-Agosto JA. Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway. Cells. 2012 Oct 19; 1(4):886-904. PMID: 24710534; PMCID: PMC3901137.
    26. 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.
    27. Dragojlovic-Munther M, Martinez-Agosto JA. 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.
    28. 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 JA, 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
    29. Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. Phenotypic progression of skeletal anomalies in CLOVES syndrome. Am J Med Genet A. 2012 Jul; 158A(7):1690-5. PMID: 22628280.
      View in: PubMed
    30. Tieu KS, Tieu RS, Martinez-Agosto JA, Sehl ME. Stem cell niche dynamics: from homeostasis to carcinogenesis. Stem Cells Int. 2012; 2012:367567. PMID: 22448171; PMCID: PMC3289927.
    31. Mondal BC, Mukherjee T, Mandal L, Evans CJ, Sinenko SA, Martinez-Agosto JA, 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.
    32. Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto JA, 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
    33. Quintero-Rivera F, Martinez-Agosto JA. 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
    34. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. 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
    35. Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto JA, 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.
    36. Sinenko SA, Mandal L, Martinez-Agosto JA, 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.
    37. Bui YK, Renella P, Martinez-Agosto JA, 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
    38. Martinez-Agosto JA, 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
    39. Mandal L, Martinez-Agosto JA, 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.