Maria I. Scarano

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 161 citations · Full text

Epidemiology, Sequencing, Medicine +7

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

Marina De Rosa, Carlo Fasano, Luigi Panariello et al. · Oncogene · 2000 · 153 citations · Full text

Recessive Inheritance, Disease Mechanism, Mendelian Disorder +10

Different patterns of extracellular matrix protein expression in the convexity and the concavity of the dilated aorta with bicuspid aortic valve: Preliminary results

M. Francesca Cotrufo, Alessandro Della Corte, Luca Salvatore De Santo et al. · Journal of Thoracic and Cardiovascular Surgery · 2005 · 139 citations · Full text

Mechanobiology, Engineering, Medicine +13

Whole-gene <i>APC</i> deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas

Oliver M. Sieber, H. Lamlum, Michael Crabtree et al. · Proceedings of the National Academy of Sciences · 2002 · 133 citations · Full text

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

Lin Li, Mohammad Ghorbani, Monika Weisz‐Hubshman et al. · Journal of Clinical Investigation · 2019 · 64 citations · Full text

Lysine Acetyltransferase 8, Brain Development, Epigenetic Change +20