Concepedia

Author

Angela Mormile

Federico II University Hospital

Also Known As

Angela Mormile

10

Publications

287

Citations

9

H-Index

8

Concepts

All Affiliations

Federico II University HospitalUniversity of Naples Federico IITelethon Institute Of Genetics And MedicineOspedale Antonio Cardarelli
AM

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

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Molecular Biology

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Pathology

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Autism

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Down Syndrome

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Angela Mormile

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8

Publications

273

Citations

8

H-Index

YearCitations

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

Daniela Melis, Rita Genesio, Pasquale Boemio,

American Journal of Medical Genetics Part A

2012

62

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

Rita Genesio, Paolo Fontana, Angela Mormile,

Molecular Cytogenetics

2015

48

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,

Molecular Cytogenetics

2015

46

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

Rita Genesio, Valentina Ronga, Pia Castelluccio,

Molecular Cytogenetics

2013

43

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,

˜The œItalian Journal of Pediatrics/Italian journal of pediatrics

2016

28

Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene

Paolo Fontana, Rita Genesio, Alberto Casertano,

Gene

2014

18

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia,

European Journal of Human Genetics

2019

18

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

Rita Genesio, Giuseppe Maria Maruotti, Gabriele Saccone,

Clinical Case Reports

2018

10

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