Concepedia

Angela Mormile

AM

8

Publications

273

Citations

8

H-Index

2012

Active since

Affiliations

Federico II University Hospital(Current)

University of Naples Federico II

Telethon Institute Of Genetics And Medicine

Ospedale Antonio Cardarelli

Angela Mormile is an author at Federico II University Hospital specializing in genetics, medicine, and autism.

Top concepts

GeneticsAutismMedicinePathologyPathogenesisDown SyndromeMolecular BiologyInherited Metabolic Disease

Publications per year

2012–2019

8

Publications

8

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Daniela Melis, Rita Genesio, Pasquale Boemio et al. · American Journal of Medical Genetics Part A · 2012 · 62 citations

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

Rita Genesio, Paolo Fontana, Angela Mormile et al. · Molecular Cytogenetics · 2015 · 48 citations · Full text

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

Rita Genesio, Angela Mormile, Maria Rosaria Licenziati et al. · Molecular Cytogenetics · 2015 · 46 citations · Full text

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Rita Genesio, Valentina Ronga, Pia Castelluccio et al. · Molecular Cytogenetics · 2013 · 43 citations · Full text

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Gerarda Cappuccio, Francesco Vitiello, Alberto Casertano et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 2016 · 28 citations · Full text

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