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Emanuela Avola

Observed names: Avola, E, Avola, Emanuela, E Avola
ORCID: 0000-0002-6740-665X
Observed ORCID: 0000-0002-6740-665X
OpenAlex ID: A5005361997
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
2017 · Holly A F Stessman, Bo Xiong, et al. · Nature Genetics · 556
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 · Tianyun Wang, Kendra Hoekzema, et al. · Nature Communications · 207
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2018 · Lucilla Pizzo, Matthew Jensen, et al. · Genetics in Medicine · 193
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
2015 · DDD Study, David A Koolen, et al. · European Journal of Human Genetics · 185
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
2017 · Madeleine R Geisheker, Gabriel Heymann, et al. · Nature Neuroscience · 174
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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
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 74
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Recurrent duplications of 17q12 associated with variable phenotypes
2015 · Elyse Mitchell, Andrew Douglas, et al. · American Journal of Medical Genetics Part A · 60
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
2014 · Marta Romani, Francesca Mancini, et al. · Human Genetics · 39
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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
2009 · Roberto Giorda, M. Clara Bonaglia, et al. · The American Journal of Human Genetics · 39
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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
2023 · Corrine Smolen, Matthew Jensen, et al. · The American Journal of Human Genetics · 29
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis
2013 · Lucia Grillo, Donatella Greco, et al. · Gene · 22
Comparison of three probiotics in the treatment of acute diarrhea in mentally retarded children.
2000 · C Barone, R Pettinato, et al. · PubMed · 18
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2025 · Matthew Jensen, Corrine Smolen, et al. · Cell · 17
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
2014 · Daniela Di Benedetto, Sebastiano Antonino Musumeci, et al. · American Journal of Medical Genetics Part A · 17
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation
2005 · M Fichera, M Falco, et al. · Clinical Genetics · 13
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families
2023 · Francesco Calì, Francesco Domenico Di Blasi, et al. · Medicina · 8
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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 · Tianyun Wang, Kendra Hoekzema, et al. · Nature Communications · 8
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2024 · Matthew Jensen, Corrine Smolen, et al. · medRxiv · 5
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
2023 · Corrine Smolen, Matthew Jensen, et al. · medRxiv · 5
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Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay
2005 · Michele Falco, Corrado Romano, et al. · Clinical Chemistry · 5
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?
2002 · M Fichera, E Borgione, et al. · Journal of Medical Genetics · 4
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GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
2026 · Pinella Failla, Valentina Muto, et al. · Brain
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders
2026 · Francesco Calì, Simone Treccarichi, et al. · International Journal of Molecular Sciences
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
2020 · Tianyun Wang, Kendra Hoekzema, et al. · Nature Communications
Works count: 26
Citation count: 1,678
H-index: 14
I10-index: 15
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