Maria Teresa Bonati

Autosomal dominant restless legs syndrome maps on chromosome 14q

Maria Teresa Bonati, Luigi Ferini‐Strambi, Paolo Aridon et al. · Brain · 2003 · 268 citations · Full text

Sleep Disorders, Sleep, Sleep Disorder +14

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Maria Teresa Bonati, Silvia Russo, Palma Finelli et al. · Neurogenetics · 2007 · 98 citations

Psychiatry, Syndromic Autism, Angelman Syndrome +10

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 75 citations · Full text

Allelic Variant, Variable Brain Anomalies, Genetic Disorder +9