Maddalena Gigante

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Miguel Verbitsky, Rik Westland, Alejandra Perez et al. · Nature Genetics · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna‐Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess et al. · The American Journal of Human Genetics · 2012 · 233 citations · Full text

Medicine, Genetics, Molecular Genetics +16

The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes

Laura Calabresi, Livia Pisciotta, Anna Costantin et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2005 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

Maddalena Gigante, Paola Pontrelli, Eustacchio Montemurno et al. · Nephrology Dialysis Transplantation · 2009 · 122 citations

Medicine, Molecular Genetics, Pathology +17

Mutations in <i>DSTYK</i> and Dominant Urinary Tract Malformations

Simone Sanna‐Cherchi, Rosemary V. Sampogna, Natalia Papeta et al. · New England Journal of Medicine · 2013 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +17