Publications

	A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors. Mandal L, Martinez-Agosto JA, Evans CJ, Hartenstein V, Banerjee U. Nature. 2007 Mar 15; 446(7133): 320-4.
	Interaction between Differentiating Cell- and Niche-Derived Signals in Hematopoietic Progenitor Maintenance. Mondal BC, Mukherjee T, Mandal L, Evans CJ, Sinenko SA, Martinez-Agosto JA, Banerjee U. Cell. 2011 Dec 23; 147(7): 1589-600.
	Clinical exome sequencing for genetic identification of rare Mendelian disorders. 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. JAMA. 2014 Nov 12;312(18):1880-7.2011.
	Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 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. Nat Genet. 2012 May 27; 44(7): 788-92.
	The hematopoietic stem cell and its niche: a comparative view. Martinez-Agosto JA, Mikkola HK, Hartenstein V, Banerjee U. Genes Dev. 2007 Dec 1; 21(23):3044-60. Review.
	Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila. Sinenko SA, Mandal L, Martinez-Agosto JA, Banerjee U. Dev Cell. 2009 May 19; 16(5): 756-63.
	Yorkie and Scalloped signaling regulates Notch-dependent lineage specification during Drosophila hematopoiesis. Ferguson GB, Martinez-Agosto JA. Curr Biol. 2014 Nov 17;24(22):2665-72.
	Stem Cell Niche Dynamics: From Homeostasis to Carcinogenesis. Tieu KS, Tieu RS, Martinez-Agosto JA, Sehl ME. Stem Cells. 2012 Feb 9; 2012.
	Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. 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. Hum Mol Genet. 2010 Mar 1; 19(5):861-78. Epub 2009 Dec 16.
	Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors. Dragojlovic-Munther M, Martinez-Agosto JA. Development. 2012 Oct 15; 139(20): 3752-63.
	Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. J Med Genet. 2014 May;51(5):294-302.
	Support for calcium channel gene defects in autism spectrum disorders. Lu AT, Dai X, Martinez-Agosto JA, Cantor RM. Mol Autsm. 2012 Dec 15; 3(18).
	Macrocephaly as a clinical indicator of genetic subtypes in autism. Klein S, Sharifi-Hannauer P, Martinez-Agosto JA. Autism Res. 2013 February; 6(1): 51-6.
	DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 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, Wiśniowiecka-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. Eur J Hum Genet. 2015 May 6; 23(5).
	Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function. Dragojlovic-Munther M, Martinez-Agosto JA. Dev Bio. 2013 April 18.
	Insulin- and warts-dependent regulation of tracheal plasticity modulates systemic larval growth during hypoxia in Drosophila melanogaster. Wong DM, Shen Z, Owyang KE, Martinez-Agosto JA. PLoS One. 2014 Dec 26.
	Conserved family of glycerol kinase loci in Drosophila melanogaster. Martinez-Agosto JA, McCabe ER. Mol Genet Metab. 2006 Aug; 88(4):334-45. Epub 2006 Mar 20.
	B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis. Chang VY, Quintero-Rivera F, Baldwin EE, Woo K, Martinez-Agosto JA, Fu C, Gomperts BN. Pediatr Blood Cancer. 2011 Mar; 56(3): 470-3.
	Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Chang VY, Federman N, Martinez-Agosto JA, Tatishchev SF, Nelson SF Pediatr Blood Cancer. 2012 Sept 26; 60(4): 570-574.
	Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.. Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F Gene. 2015 Feb 10; 556(2): 249-253.
	Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Am J Med Genet Part A. Oct 2010; 152A(10): 2459-67
	Hemifacial microsomia in cat-eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry. Quintero-Rivera F, Martinez-Agosto JA. Am J Med Genet Part A. 2013 Aug; 161(8): 1985-91.
	Phenotypic progression of skeletal anomalies in CLOVES syndrome. Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. Am J Med Genet Part A. 2012 July; 158A(7): 1690-5.
	Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. Bui YK, Renella P, Martinez-Agosto JA, Verity A, Madikians A, Alejos JC. Pediatr Transplant. 2008 Mar; 12(2): 246-50. Epub 2008 Feb 13.
	Kicking it up a Notch for the best in show: Scalloped leads Yorkie into the haematopoietic arena. Ferguson GB, Martinez-Agosto JA. Fly. 2014 Oct 2; 8(4): 206-17. Epub 2015 Feb 13.
	Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. Quintero-Rivera F, Martinez-Agosto JA. J Paediatr Child H. 2010 Feb 16. [Epub ahead of print]
	Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway. Chiang J, Martinez-Agosto JA. Cells. 2012 Oct 19; 1(4): 886-904.