Am J Med Genet A 2020 Dec 18;182(12):3060-3063. Epub 2020 Sep 18.
Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan, USA.
Cold Spring Harb Mol Case Stud 2020 Aug 25;6(4). Epub 2020 Aug 25.
Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan 49503, USA.
Am J Med Genet A 2020 03 5;182(3):493-497. Epub 2020 Feb 5.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Hum Mutat 2019 Oct 23. Epub 2019 Oct 23.
Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.
Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:
Hum Mutat 2019 08 18;40(8):1013-1029. Epub 2019 Jun 18.
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
Genet Med 2019 09 11;21(9):2036-2042. Epub 2019 Feb 11.
GeneDx, Gaithersburg, MD, USA.
Am J Med Genet A 2019 03 24;179(3):373-380. Epub 2018 Dec 24.
Spectrum Health Medical Group, Department of Medical Genetics, Grand Rapids, Michigan.
N Engl J Med 2017 08;377(6):544-552
From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).
J Med Genet 2016 09 6;53(9):608-15. Epub 2016 May 6.
Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Eur J Med Genet 2015 Apr 10;58(4):243. Epub 2015 Feb 10.
Department of Medical Genetics, Spectrum Health, Grand Rapids, MI, USA. Electronic address:
Am J Med Genet A 2013 May 13;161A(5):1117-21. Epub 2013 Mar 13.
Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA.
J Colloid Interface Sci 2012 Mar 3;369(1):134-43. Epub 2011 Dec 3.
Department of Materials Science and Engineering, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, United States.
Am J Med Genet A 2011 Jan;155A(1):174-9
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202-5251, USA.
Nat Genet 2010 Mar 14;42(3):203-9. Epub 2010 Feb 14.
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.