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Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child. J Pediatr Hematol Oncol. 2020 03; 42(2):e114-e116.
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. PMID: 30789458.
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2 Fields:
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HumansCells
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When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med. 2020 02; 8(2):e1027.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. PMID: 31872981.
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1 Fields:
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Humans
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499.
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, Undiagnosed Diseases Network , Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746.
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23 Fields:
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HumansCells
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ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 03; 179(3):498-502.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. PMID: 30676690.
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2 Fields:
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HumansCells
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Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations. BMJ Case Rep. 2018 Jan 31; 2018.
Nguyen KA, Elnaggar M, Gallant NM, Tanios M. PMID: 29386211.
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2 Fields:
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Humans
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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017 11; 122(3):76-84.
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. PMID: 28711408.
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PubMed Mentions:
6 Fields:
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HumansCellsPHPublic Health
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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.
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, UCLA Clinical Genomics Center , Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. PMID: 28296084.
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PubMed Mentions:
10 Fields:
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Humans
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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.
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39 Fields:
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Humans
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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18(2):162-7.
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. PMID: 25856670.
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PubMed Mentions:
7 Fields:
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HumansPHPublic Health
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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.
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2 Fields:
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HumansCells
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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.
Lam C, Carter JM, Cederbaum SD, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong DA. PMID: 24103308.
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7 Fields:
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HumansPHPublic Health
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A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106.
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. PMID: 23606313.
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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.
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. PMID: 22424739.
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22 Fields:
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HumansPHPublic Health
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Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. . 2011 Nov; 155A(11):2871-8.
Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. PMID: 21994138.
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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.
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. PMID: 19619491.
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PubMed Mentions:
132 Fields:
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AnimalsCells
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Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol. 2008 Jan 01; 313(1):210-24.
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. PMID: 18022614.
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PubMed Mentions:
143 Fields:
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AnimalsCells
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Wnt-beta-catenin signaling initiates taste papilla development. Nat Genet. 2007 Jan; 39(1):106-12.
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. PMID: 17128274.
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PubMed Mentions:
83 Fields:
Translation:
AnimalsCells