NatalieMichelleGallantMD

PubMed

• 1 citations
  Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
  Chaya N Murali, John R Barber, Robert McCarter, Anqing Zhang, Natalie Gallant, Kara Simpson, Naghmeh Dorrani, Greta N Wilkening, Ron D Hays, Uta Lichter-Konecki, , Lin...> ;Molecular Genetics and Metabolism. 2023 Nov 1
• 10 citations
  When moments matter: Finding answers with rapid exome sequencing.
  Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret G. Au, John M. Graham, Kathryn Singh, Natalie M. Gallant, Linda M. Randolph, Meghan C. Towne, Jesse M. Hun...> ;Molecular Genetics & Genomic Medicine. 2020 Feb 1
• 7 citations
  ALG11-CDG syndrome: Expanding the phenotype.
  Maria K. Haanpää, Bobby G. Ng, Natalie M. Gallant, Kathryn E. Singh, Candida Brown, Virginia Kimonis, Hudson H. Freeze, Eric Muller> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 12 citations
  Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.
  Nicholas Placone, Roy L. Kao, Pamela Kempert, Maritza E. Ruiz, Jacqueline Casillas, Maki Okada, James B. Gibson, Carlos Maggi, Kevin O'Brien, Roy Nattiv, Natalie M. Ga...> ;Journal of Pediatric Hematology/oncology. 2020 Mar 1
• 5 citations
  Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations
  Khoa A. Nguyen, Mohamed Y. Elnaggar, Natalie M. Gallant, Maged Tanios> ;BMJ Case Reports. 2018 Jan 31
• 17 citations
  Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
  Natalie M. Gallant, Karen Leydiker, Yael Wilnai, Chung Lee, Fred Lorey, Lisa Feuchtbaum, H. Tang, Jennifer M. Carter, Gregory M. Enns, Seymour Packman, H.J. Lin, Willi...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 34 citations
  De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
  Sureni V. Mullegama, Steven D Klein, Milene V. Mulatinho, Tharanga Niroshini Senaratne, Kathryn E. Singh, Dzung C Nguyen, Natalie M. Gallant, Samuel P. Strom, Shahnaz ...> ;American Journal of Medical Genetics. Part A. 2017 Mar 11
• 18 citations
  Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
  Derek Wong, Silvia Tortorelli, Lisa R. Bishop, Elizabeth A. Sellars, Lisa A. Schimmenti, Natalie M. Gallant, Carlos E. Prada, Robert J. Hopkin, Nancy D. Leslie, Susan ...> ;Genetics in Medicine. 2016 Feb 1
• 76 citations
  DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
  Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A. Martinez-Agosto, Natalia Gomez-Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louann...> ;European Journal of Human Genetics. 2015 Oct 1
• 3 citations
  Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion
  Natalie M. Gallant, Dorina Gui, Charles Lassman, William H. Yong, Michael A. Teitell, Diana Mandelker, Fred Lorey, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera> ;Gene. 2015 Feb 10
• 14 citations
  Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
  Christina Lam, Jennifer M. Carter, Stephen D. Cederbaum, Julie Neidich, Natalie M. Gallant, Fred Lorey, Lisa Feuchtbaum, Derek Wong> ;Molecular Genetics and Metabolism. 2013 Dec 1
• 4 citations
  A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
  Yuxin Fan, Jon G. Steller, Iris L. Gonzalez, Wim Kulik, Michelle Fox, Richard Chang, Brandy A. Westerfield, Anjan S. Batra, Raymond Y. Wang, Natalie M. Gallant, Liana ...> ;JIMD Reports. 2013 Apr 19
• 46 citations
  Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
  Natalie M. Gallant, Karen Leydiker, Hao Tang, Lisa Feuchtbaum, Fred Lorey, R.L. Puckett, Joshua L. Deignan, Julie Neidich, Naghmeh Dorrani, Erica Chang, Bruce A. Barsh...> ;Molecular Genetics and Metabolism. 2012 May 1
• 16 citations
  Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion
  Natalie M. Gallant, Erin E. Baldwin, Noriko Salamon, Katrina M. Dipple, Fabiola Quintero-Rivera> ;American Journal of Medical Genetics. Part A. 2011 Nov 1
• 250 citations
  Reciprocal requirements for Eda/Edar/NF-κB and Wnt/β-catenin signaling pathways in hair follicle induction
  Yuhang Zhang, Philip Tomann, Thomas Andl, Natalie M. Gallant, Joerg Huelsken, Boris Jerchow, Walter Birchmeier, Ralf Paus, Stefano Piccolo, Marja L. Mikkola, Edward E....> ;Developmental Cell. 2009 Jul 21
• 277 citations
  Wnt/β-catenin signaling directs multiple stages of tooth morphogenesis
  Fei Liu, Emily Y. Chu, Brenda Watt, Yuhang Zhang, Natalie M. Gallant, Thomas Andl, Steven H. Yang, Min Min Lu, Stefano Piccolo, Ruth Schmidt-Ullrich, Makoto Mark Taket...> ;Developmental Biology. 2008 Jan 1
• 116 citations
  Wnt-β-catenin signaling initiates taste papilla development
  Fei Liu, Shoba Thirumangalathu, Natalie M. Gallant, Steven H. Yang, Cristi L. Stoick-Cooper, Seshamma T. Reddy, Thomas Andl, Makoto Mark Taketo, Andrzej A. Dlugosz, Ra...> ;Nature Genetics. 2007 Jan 1
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