Publications

A rapid flow strategy for the oxidative cyanation of secondary and tertiary amines via C-H activation.
Sci Rep 2017 Nov 24;7(1):16311. Epub 2017 Nov 24.
Water Systems Division, Water Resources Recovery Branch, National Risk Management Research Laboratory, U. S. Environmental Protection Agency, 26 West Martin Luther King Drive, MS 443, Cincinnati, Ohio, 45268, USA.





SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Neurology 2016 Oct 14;87(15):1607-1612. Epub 2016 Sep 14.
From the MRC Centre for Neuromuscular Diseases (A.H., P.J.T., M.L., M.G.H., J.C.B., H.H., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Department of Human Genetics and Hussman Institute for Human Genomics (M.A.G., S.Z.), Miller School of Medicine, University of Miami; The Genesis Project Foundation (M.A.G.), Miami, FL; The Dubowitz Neuromuscular Centre (F.M., A.Y.M.), UCL Institute of Child Health, London; and Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norwich, UK.

Mining Available Data from the United States Environmental Protection Agency to Support Rapid Life Cycle Inventory Modeling of Chemical Manufacturing.
Environ Sci Technol 2016 Sep 26;50(17):9013-25. Epub 2016 Aug 26.
United States Environmental Protection Agency, National Risk Management Research Laboratory , 26 West Martin Luther King Drive, Cincinnati, Ohio 45268, United States.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Brain 2016 Jun 23;139(Pt 6):1649-56. Epub 2016 Mar 23.
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
J Neurol Sci 2016 May 12;364:116-21. Epub 2016 Mar 12.
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Street 25-29, 1083 Budapest, Hungary. Electronic address:



Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.
2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
Am J Hum Genet 2014 Dec 20;95(6):689-97. Epub 2014 Nov 20.
Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Hum Mutat 2014 Nov;35(11):1363-71
Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Brain 2014 Aug 25;137(Pt 8):2164-77. Epub 2014 Jun 25.
3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen, Germany.

Motor protein mutations cause a new form of hereditary spastic paraplegia.
Neurology 2014 Jun 7;82(22):2007-16. Epub 2014 May 7.
From the Hertie-Institute for Clinical Brain Research (A.C.O., J.R., L.S., R.S.), Department of Neurodegenerative Diseases, University of Tübingen, Germany; Bogazici University (E.B., B.O.), Department of Molecular Biology and Genetics, Istanbul; Tepecik Research and Training Hospital (L.O., Y.Z.), Clinics of Neurology, Izmir, Turkey; Diagnostic and Interventional Neuroradiology (T.L., B.B.), Department of Radiology, University Hospital Tübingen; German Research Center for Neurodegenerative Diseases (DZNE) (J.R., R.S., L.S.), Tübingen, Germany; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (A.P.R., M.A.G., S.Z., R.S.), University of Miami Miller School of Medicine, FL; Department of Neurology (D.T.), University of Duisburg-Essen; and Department of Physics E22 (Biophysics) (G.W.), Technical University Munich, Garching, Germany.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.
Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:





GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.
Hum Mutat 2013 Jun 3;34(6):842-6. Epub 2013 Apr 3.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Am J Hum Genet 2013 Feb 17;92(2):238-44. Epub 2013 Jan 17.
Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Pitie-Salpêtrière Hospital, Université Pierre et Marie Curie (Paris 6), Paris, France.

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens.
Biology (Basel) 2012 Dec 5;1(3):766-77. Epub 2012 Dec 5.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.



OF