Concetta Barone

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

Paolo Bosco, Rosa‐Maria Guéant‐Rodriguez, Guido Anello et al. · American Journal of Medical Genetics Part A · 2003 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation

M. Florencia Iulita, Alison Ower, Concetta Barone et al. · Alzheimer s & Dementia · 2016 · 103 citations

Medicine, Neurology, Neuroscience +17

Donor-Derived Strongyloides stercoralis Infection in Solid Organ Transplant Recipients in the United States, 2009–2013

Francisca Abanyie, Elizabeth B. Gray, Kristin W. Delli Carpini et al. · American Journal of Transplantation · 2015 · 98 citations · Full text

Medicine, Infectious Diseases, Surgery +15

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

Lucia Grillo, S Reitano, Giovanni Belfiore et al. · European Journal of Medical Genetics · 2010 · 95 citations

Life Sciences, Genetics, Molecular Genetics +14