Publications by authors named "Silvia Tortorelli"

Mol Genet Metab 2020 Nov 3;131(3):316-324. Epub 2020 Oct 3.

Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA; Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA, USA.

Int J Neonatal Screen 2020 Sep 5;6(3):62. Epub 2020 Aug 5.

Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA; (J.M.); (S.S.).

Int J Neonatal Screen 2020 Jun 10;6(2):33. Epub 2020 Apr 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (A.L.P.); (G.P.); (C.T.); (D.M.); (D.O.); (K.R.); (S.T.); (P.R.).

Int J Neonatal Screen 2020 Mar 7;6(1):10. Epub 2020 Feb 7.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (J.M.L.); (A.L.W.); (G.P.); (A.L.S.); (D.G.); (D.O.); (K.R.); (D.M.); (P.R.).

Am J Med Genet A 2021 01 12;185(1):213-218. Epub 2020 Oct 12.

Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA.

Int J Neonatal Screen 2020 Jun 30;6(2). Epub 2020 May 30.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Mol Genet Metab 2020 08 6;130(4):247-254. Epub 2020 Jun 6.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address:

Genet Med 2020 Jun 24;22(6):1108-1118. Epub 2020 Feb 24.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Genet Med 2020 04 11;22(4):686-697. Epub 2019 Dec 11.

Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.

Mol Genet Metab 2020 02 5;129(2):106-110. Epub 2019 Nov 5.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Clin Chem 2018 12 23;64(12):1753-1761. Epub 2018 Oct 23.

Departments of Laboratory Medicine and Pathology.

Mol Genet Metab 2018 04 27;123(4):428-432. Epub 2018 Feb 27.

Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.

Mol Genet Genomic Med 2017 11 11;5(6):795-799. Epub 2017 Sep 11.

Mayo Clinic College of Medicine, Rochester, Minnesota.

Genet Med 2018 08 9;20(8):847-854. Epub 2017 Nov 9.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Genet Med 2018 08 2;20(8):840-846. Epub 2017 Nov 2.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

J Mol Diagn 2017 09;19(5):755-765

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

Genet Med 2017 02 5;19(2):256-263. Epub 2017 Jan 5.

Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

Int J Neonatal Screen 2016 Dec 6;2(4). Epub 2016 Dec 6.

Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN 55455, USA.

Clin Chem 2016 09 20;62(9):1248-54. Epub 2016 Jul 20.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Hum Mutat 2016 10 8;37(10):1097-105. Epub 2016 Aug 8.

Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.