28 Publications
Am J Med Genet A 2021 Jan 31. Epub 2021 Jan 31.
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.
Genet Med 2020 Nov 27. Epub 2020 Nov 27.
School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Am J Hum Genet 2020 11 26;107(5):932-941. Epub 2020 Oct 26.
Department of Medicine, Division of Medical Genetics, University of Washington Medical Center, Seattle, WA 98195, USA.
Genet Med 2021 Feb 29;23(2):280-288. Epub 2020 Sep 29.
HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
Curr Opin Pediatr 2019 12;31(6):732-738
HudsonAlpha Institute for Biotechnology, Huntsville.
Genet Med 2019 09 11;21(9):2036-2042. Epub 2019 Feb 11.
GeneDx, Gaithersburg, MD, USA.
Genet Med 2019 May;21(5):1261-1262
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Genet Med 2019 05 5;21(5):1100-1110. Epub 2018 Oct 5.
Mol Genet Genomic Med 2018 11 21;6(6):898-909. Epub 2018 Aug 21.
Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.
Genet Med 2018 12 12;20(12):1635-1643. Epub 2018 Apr 12.
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Hum Genet 2018 May 8;137(5):375-388. Epub 2018 May 8.
HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.
Genet Med 2018 08 16;20(8):855-866. Epub 2017 Nov 16.
Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Genome Med 2017 07 28;9(1):72. Epub 2017 Jul 28.
Genome Med 2017 05 30;9(1):43. Epub 2017 May 30.
Am J Hum Genet 2017 Jan 22;100(1):117-127. Epub 2016 Dec 22.
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:
Neurol Genet 2016 Dec 31;2(6):e118. Epub 2016 Oct 31.
The Danish Epilepsy Centre Filadelfia (R.S.M., G.R.), Dianalund, Denmark; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Sorbonne Universités (S.W., E.M., V.L., E.L., S.B.), UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, AP-HP, Institut du cerveau et la moelle (ICM)-Hôpital Pitié-Salpêtrière, Paris, France; Epilepsy Unit (S.W., V.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; Neurogenetics Group (S.W.), VIB-Department of Molecular Genetics; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (S.W.), University Hospital Antwerp, Belgium; Department of Pediatric Neurosurgery (M.C., S.F.-S., G.D.), Fondation Rothschild, Paris, France; Université Paris Sorbonne Cité (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Pères, Paris, France; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (S.M.H., J.W.P., K.M.B., G.M.C.), Huntsville, AL; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (D.M., V.C., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; Genosplice (P.d.l.G.), Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Amplexa Genetics (L.H.G.L.), Odense, Denmark; Department of Genetics and Cytogenetics (E.L., S.B.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; and University of Copenhagen (G.R.), Denmark.
Genet Med 2017 05 3;19(5):575-582. Epub 2016 Nov 3.
The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Genet Med 2017 03 25;19(3):337-344. Epub 2016 Aug 25.
Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Am J Hum Genet 2016 07;99(1):247
Am J Hum Genet 2016 07;99(1):246
Am J Hum Genet 2016 06 12;98(6):1067-1076. Epub 2016 May 12.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:
Am J Hum Genet 2016 06 12;98(6):1051-1066. Epub 2016 May 12.
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Breast Cancer Res Treat 2014 Jul 15;146(2):287-97. Epub 2014 Jun 15.
Genome Res 2013 Mar 16;23(3):555-67. Epub 2013 Jan 16.
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
PLoS Genet 2011 Aug 11;7(8):e1002228. Epub 2011 Aug 11.
HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America.
J Biol Chem 2008 Nov 18;283(46):31449-59. Epub 2008 Sep 18.
Department of Biological Sciences, University of Alabama, Tuscaloosa, Alabama 35487, USA.
J Biol Chem 2006 Nov 11;281(44):33302-12. Epub 2006 Sep 11.