21 Publications
Sci Adv 2020 Dec 2;6(49). Epub 2020 Dec 2.
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Brain 2020 12;143(12):3564-3573
Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.
Mol Ther 2020 Nov 11. Epub 2020 Nov 11.
Department of Pediatrics, UTSW Medical Center, Dallas, TX 75390, USA. Electronic address:
Cells 2020 06 5;9(6). Epub 2020 Jun 5.
Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USA.
JIMD Rep 2019 Nov 21;50(1):44-49. Epub 2019 Sep 21.
Greenwood Genetic Center Greenwood South Carolina.
Clin Epigenetics 2019 04 27;11(1):64. Epub 2019 Apr 27.
Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.
Hum Mutat 2019 07 13;40(7):842-864. Epub 2019 Apr 13.
Section Cell Biology of Rare Diseases, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
J Hum Genet 2019 Jun 11;64(6):561-572. Epub 2019 Mar 11.
Greenwood Genetic Center, Greenwood, SC, 29646, USA.
Genet Med 2019 09 11;21(9):2036-2042. Epub 2019 Feb 11.
GeneDx, Gaithersburg, MD, USA.
Clin Dysmorphol 2019 Jan;28(1):7-16
Greenwood Genetic Center, Greenwood, South Carolina.
Brain 2018 08;141(8):2299-2311
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Pediatr Dermatol 2017 May;34(3):352-355
Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
Pediatr Neurol 2016 Sep 18;62:71-2. Epub 2016 Apr 18.
Greenwood Genetic Center, North Charleston, South Carolina.
Am J Med Genet A 2014 Sep 14;164A(9):2317-23. Epub 2014 Jul 14.
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
Biol Blood Marrow Transplant 2014 Nov 10;20(11):1847-51. Epub 2014 Jul 10.
Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.
Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.
Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.
Am J Med Genet A 2013 Jan 3;161A(1):120-30. Epub 2012 Dec 3.
Greenwood Genetic Center, Greenwood, SC, USA.
Arch Pathol Lab Med 2011 Apr;135(4):503-10
Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Am J Med Genet A 2008 Feb;146A(4):512-3
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.