Maria Cristina Digilio

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 596 citations · Full text

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

Bruno Marino, Maria Cristina Digilio, Alessandra Toscano et al. · The Journal of Pediatrics · 1999 · 254 citations

Expanded Cardiac Spectrum, Heart Failure, Pediatric Heart Disease +7

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand et al. · Molecular Psychiatry · 2020 · 132 citations · Full text

Psychiatry, Risk Prediction, Psychotic Disorder +8

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska et al. · Human Mutation · 2011 · 74 citations · Full text

Heart Failure, Genetics, Genetic Epidemiology +18

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Elisabeth E. Mlynarski, Molly B. Sheridan, Michael Xie et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +11