 Natalie M Gallant
 Bibliographic
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Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2019 Oct 14. PMID: 31607746.
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Placone N, Kao RL, Kempert P, Ruiz ME, Casillas JN, Okada M, Gibson JB, Maggi C, O'Brien K, Nattiv R, Gallant NM, Abrams SH. Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child. J Pediatr Hematol Oncol. 2019 Feb 15. PMID: 30789458.
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Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 Mar; 179(3):498-502. PMID: 30676690.
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Nguyen KA, Elnaggar M, Gallant NM, Tanios M. Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations. BMJ Case Rep. 2018 Jan 31; 2018. PMID: 29386211.
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Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017 11; 122(3):76-84. PMID: 28711408.
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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.
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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.
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Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18(2):162-7. PMID: 25856670.
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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.
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Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA. Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. Mol Genet Metab. 2013 Dec; 110(4):477-83. PMID: 24103308.
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Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106. PMID: 23606313.
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Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61. PMID: 22424739.
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Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet A. 2011 Nov; 155A(11):2871-8. PMID: 21994138.
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Zhang Y, Tomann P, Andl T, Gallant NM, Huelsken J, Jerchow B, Birchmeier W, Paus R, Piccolo S, Mikkola ML, Morrisey EE, Overbeek PA, Scheidereit C, Millar SE, Schmidt-Ullrich R. Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction. Dev Cell. 2009 Jul; 17(1):49-61. PMID: 19619491.
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Liu F, Chu EY, Watt B, Zhang Y, Gallant NM, Andl T, Yang SH, Lu MM, Piccolo S, Schmidt-Ullrich R, Taketo MM, Morrisey EE, Atit R, Dlugosz AA, Millar SE. Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol. 2008 Jan 01; 313(1):210-24. PMID: 18022614.
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Liu F, Thirumangalathu S, Gallant NM, Yang SH, Stoick-Cooper CL, Reddy ST, Andl T, Taketo MM, Dlugosz AA, Moon RT, Barlow LA, Millar SE. Wnt-beta-catenin signaling initiates taste papilla development. Nat Genet. 2007 Jan; 39(1):106-12. PMID: 17128274.
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