Berardino Porfirio

The Metabonomic Signature of Celiac Disease

Ivano Bertini, V. De Carli, Claudio Luchinat et al. · Journal of Proteome Research · 2008 · 173 citations · Full text

Influence of Calcium-Sensing Receptor Gene on Urinary Calcium Excretion in Stone-Forming Patients

Giuseppe Vezzoli, Annalisa Tanini, Luigi Ferrucci et al. · Journal of the American Society of Nephrology · 2002 · 154 citations · Full text

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Genetic Disorder, Alkaptonuria Patients, Genetics +8

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Costanza Bacci, Roberta Sestini, Aldesia Provenzano et al. · Neurogenetics · 2009 · 101 citations

Neuro-oncology, Familial Smarcb1 Mutation, Mendelian Disorder +6