Mol Genet Metab 2021 Feb 13;132(2):119-127. Epub 2021 Jan 13.
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. Electronic address:
Am J Intellect Dev Disabil 2020 11;125(6):475-480
Judith S. Miller, University of Pennsylvania.
J Inherit Metab Dis 2020 11 3;43(6):1205-1218. Epub 2020 Aug 3.
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Pediatrics 2020 05;145(5)
Divisions of Newborn Medicine and.
Neuropsychology 2020 May 23;34(4):456-466. Epub 2020 Mar 23.
Department of Psychological Sciences, University of Missouri.
Orphanet J Rare Dis 2019 10 22;14(1):232. Epub 2019 Oct 22.
Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California at Irvine, 101 The City Drive South, Orange, CA, 92868, USA.
N Engl J Med 2019 10 9;381(17):1644-1652. Epub 2019 Oct 9.
From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).
J Inherit Metab Dis 2019 11 1;42(6):1176-1191. Epub 2019 Aug 1.
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.
Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.
Mol Genet Metab 2019 04 22;126(4):368-376. Epub 2019 Jan 22.
Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:
J Inherit Metab Dis 2019 03 22;42(2):243-253. Epub 2019 Jan 22.
Division of Neuropaediatrics and Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Genet Med 2019 08 15;21(8):1827-1831. Epub 2019 Jan 15.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mol Genet Metab 2018 11 12;125(3):228-234. Epub 2018 Sep 12.
Boston Children's Hospital and Harvard Medical School, 1 Autumn St., Rm #526, Boston, MA 02115, United States.
Genet Med 2019 03 13;21(3):622-630. Epub 2018 Sep 13.
Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA.
BMC Pediatr 2018 07 9;18(1):225. Epub 2018 Jul 9.
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
J Inherit Metab Dis 2018 07 8;41(4):657-667. Epub 2018 Feb 8.
Children's Hospital of Los Angeles, Los Angeles, CA, USA.
JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.
Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
Genet Med 2017 12 3;19(12). Epub 2017 Aug 3.
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Mol Genet Metab Rep 2017 Jun 28;11:54-58. Epub 2017 Apr 28.
Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.
Mol Genet Metab 2017 05 10;121(1):9-15. Epub 2017 Mar 10.
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Medicine, VA Boston Healthcare System, Boston, MA 02115, USA. Electronic address: