Ophthalmic Genet 2021 Jan 12:1-4. Epub 2021 Jan 12.
Departments of Pediatrics & Ophthalmology, University of California Davis , Sacramento, CA, USA.
J Pediatr Ophthalmol Strabismus 2019 Jul 5;56:e45-e48. Epub 2019 Jul 5.
Am J Med Genet A 2019 09 20;179(9):1725-1744. Epub 2019 Jun 20.
Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California.
Pediatr Blood Cancer 2019 08 30;66(8):e27788. Epub 2019 Apr 30.
Comprehensive Cancer Center, U C Davis Health, Sacramento, California.
Mol Genet Metab 2019 05 3;127(1):86-94. Epub 2019 Apr 3.
Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.
Am J Med Genet A 2019 06 25;179(6):1091-1097. Epub 2019 Mar 25.
Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.
Am J Med Genet A 2018 08 28;176(8):1778-1783. Epub 2018 Jul 28.
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Orphanet J Rare Dis 2018 04 27;13(1):68. Epub 2018 Apr 27.
Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.
Mol Genet Genomic Med 2018 Apr 12. Epub 2018 Apr 12.
Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.
Ophthalmic Genet 2018 Jan-Feb;39(1):99-102. Epub 2017 Aug 18.
a Department of Ophthalmology , Emory University , Atlanta , Georgia , USA.
Am J Hematol 2017 Nov 3;92(11):1170-1176. Epub 2017 Oct 3.
Rare Diseases Clinical Development, Sanofi Genzyme, Cambridge, MA, USA.
Blood Cells Mol Dis 2018 02 20;68:226-231. Epub 2016 Oct 20.
Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address:
J Med Genet 2017 04 10;54(4):288-296. Epub 2016 Nov 10.
Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen, Denmark.
Am J Ophthalmol Case Rep 2016 Dec 27;4:50-53. Epub 2016 Aug 27.
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
N Engl J Med 2016 Aug;375(6):545-55
From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa
Drug Des Devel Ther 2016 25;10:1771-81. Epub 2016 May 25.
Shire, Lexington, MA, USA.
Am J Hematol 2016 07 18;91(7):661-5. Epub 2016 May 18.
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
Invest Ophthalmol Vis Sci 2016 Feb;57(2):349-59
Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, Texas, United States 5Ruiz Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston, Texas, United States.
Retin Cases Brief Rep 2016 ;10(3):267-72
Departments of *Ophthalmology, and †Human Genetics, Emory School of Medicine, Atlanta, Georgia.
Mol Genet Metab 2015 Sep-Oct;116(1-2):61-8. Epub 2015 Jun 17.
University of Minnesota, United States.