Natalie M Gallant

Title(s)Health Sciences Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 11; 140(3):107696. Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage LC, Nagamani SCS. PMID: 37690181; PMCID: PMC10866211.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    3. 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; PMCID: PMC7005623.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    4. 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; PMCID: PMC7405636.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansCells
    5. 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; PMCID: PMC6426632.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    6. 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; PMCID: PMC5812423.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    7. 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.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCellsPHPublic Health
    8. 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; PMCID: PMC7033032.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    9. 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; PMCID: PMC4613469.
      View in: PubMed   Mentions: 67     Fields:    Translation:Humans
    10. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansPHPublic Health
    11. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    12. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansPHPublic Health
    13. 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; PMCID: PMC3755548.
      View in: PubMed   Mentions: 3  
    14. 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.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansPHPublic Health
    15. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion. Am J Med Genet A. 2011 Nov; 155A(11):2871-8. Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F. PMID: 21994138.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    16. 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; PMCID: PMC2859042.
      View in: PubMed   Mentions: 186     Fields:    
    17. 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; PMCID: PMC2843623.
      View in: PubMed   Mentions: 159     Fields:    
    18. 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.
      View in: PubMed   Mentions: 75     Fields:    
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