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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Thiffault I, et al. Among authors: atherton a. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a003970. doi: 10.1101/mcs.a003970. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32358097 Free PMC article.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Soden SE, et al. Among authors: atherton am. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. Sci Transl Med. 2014. PMID: 25473036 Free PMC article.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. Saunders C, et al. Among authors: atherton a. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597511 Free PMC article.
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA, Houde MF, Foley AL, Peck DS, Atherton AM, Manwaring LP, Grange DK, Heese BA, Holida MD, Quillin AL, Vinson R, Auray-Blais C, Hopkin RJ. Laney DA, et al. Among authors: atherton am. Genet Med Open. 2024 Sep 10;2:101891. doi: 10.1016/j.gimo.2024.101891. eCollection 2024. Genet Med Open. 2024. PMID: 39669636 Free PMC article.
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Laney DA, et al. Among authors: atherton am. Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232851 Free article. Review.
Ashkenazi Jewish genetic disease carrier screening.
Begleiter ML, Buchholz JL, Atherton AM, Mays LZ, Lund MM, Strenk ME. Begleiter ML, et al. Genet Med. 2008 Jun;10(6):461; author reply 461-2. doi: 10.1097/gim.0b013e318170f87e. Genet Med. 2008. PMID: 18496229 No abstract available.
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
Lampe C, Atherton A, Burton BK, Descartes M, Giugliani R, Horovitz DD, Kyosen SO, Magalhães TS, Martins AM, Mendelsohn NJ, Muenzer J, Smith LD. Lampe C, et al. Among authors: atherton a. JIMD Rep. 2014;14:99-113. doi: 10.1007/8904_2013_289. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515576 Free PMC article.
72 results