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ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd. Haanpää MK, et al. Among authors: gallant nm. Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24. Am J Med Genet A. 2019. PMID: 30676690 Free PMC article.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
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. Gallant NM, et al. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
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. Mullegama SV, et al. Among authors: gallant nm. Am J Med Genet A. 2017 May;173(5):1319-1327. doi: 10.1002/ajmg.a.38207. Epub 2017 Mar 11. Am J Med Genet A. 2017. PMID: 28296084 Free PMC article.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
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. Lee H, et al. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
When moments matter: Finding answers with rapid exome sequencing.
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. Powis Z, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1027. doi: 10.1002/mgg3.1027. Epub 2019 Dec 24. Mol Genet Genomic Med. 2020. PMID: 31872981 Free PMC article.
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