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Emanuela Avola | Researchclopedia

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Emanuela Avola

Oasi Maria SS ORCID

32

Works

1,738

Citations

13

h-index

14

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

University of Catania1990–1991

Centro de Genética Clínica2005–2005

Oasi Maria SS2002–2025

I.R.C.C.S. Oasi Maria SS2013–2015

Erasmus MC - Sophia Children’s Hospital2015–2015

Top Works

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman,Bo Xiong,et al.

2017572 citations

Congenital heart defects research

Genetic Associations and Epidemiology

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo,Matthew Jensen,et al.

2018220 citations

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang,Kendra Hoekzema,et al.

2020210 citations

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

DDD Study,David A. Koolen,et al.

2015185 citations

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker,Gabriel Heymann,et al.

2017179 citations

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Roberto Giorda,María Clara Bonaglia,et al.

200973 citations

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse Mitchell,Andrew G. L. Douglas,et al.

201563 citations

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Marta Romani,Francesca Mancini,et al.

201439 citations

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Corrine Smolen,Matthew Jensen,et al.

202339 citations