Author details

Full Name

Emanuela Avola

Affiliation

Oasi Research Institute-IRCCS

ORCID

Career Start Year

1990

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37292616	Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.	medRxiv	2023
37629793	Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.	Medicina (Kaunas)	2023
37979581	Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.	Am J Hum Genet	2023
35258775	An approach to evaluate the quality of radiological reports in Head and Neck cancer loco-regional staging: experience of two Academic Hospitals.	Radiol Med	2022
34021845	Pseudo-pneumatosis of the gastrointestinal tract: its incidence and the accuracy of a checklist supported by artificial intelligence (AI) techniques to reduce the misinterpretation of pneumatosis.	Emerg Radiol	2021
33759659	Uncommon site of metastatic neuroblastoma in a 15-year-old girl: case report and description of sonographic and radiographic features.	Tumori	2021
34204911	Machine Learning to Predict In-Hospital Mortality in COVID-19 Patients Using Computed Tomography-Derived Pulmonary and Vascular Features.	J Pers Med	2021
34812365	Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments.	IEEE Access	2020
30190612	Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.	Genet Med	2019
28628100	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.	Nat Neurosci	2017
28191889	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.	Nat Genet	2017
26306646	The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.	Eur J Hum Genet	2016
25407461	Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?	Hum Genet	2015
26420380	Recurrent duplications of 17q12 associated with variable phenotypes.	Am J Med Genet A	2015
24120895	Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.	Gene	2014
24733578	Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.	Am J Med Genet A	2014
19716111	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.	Am J Hum Genet	2009
15811016	Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.	Clin Genet	2005
16306095	Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.	Clin Chem	2005
11950858	A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?	J Med Genet	2002
10879009	Comparison of three probiotics in the treatment of acute diarrhea in mentally retarded children.	Minerva Pediatr	2000
1658753	[Proline hydroxylase (hPH) as marker of hepatic fibrosis in beta thalassemia].	Pediatr Med Chir	1991
1649287	Neopterin as a marker of C hepatitis in thalassaemia major.	J Pediatr Gastroenterol Nutr	1991
2235662	[Guillain-BarrÃ© syndrome in childhood: epidemiology and clinical aspects].	Pediatr Med Chir	1990
2235663	[Clinical efficacy of sodium diclofenac in chronic juvenile polyarthritis].	Pediatr Med Chir	1990

1 - 25 of 25

Jair Tenorio

Institute of Medical and Molecular Genetics, Hospital University La Paz

Career Start Year 2012

Number of shared co-authors 3

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 3

Harry Pachajoa

Universidad Icesi

Career Start Year 2009

Number of shared co-authors 2

Johanna Christina Czeschik

Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen

Career Start Year 2008

Number of shared co-authors 7

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 2

Marketa Vlckova

Motol University Hospital and Second Faculty of Medicine, Charles University

Career Start Year 2003

Number of shared co-authors 4

B??lent Kara

Kocaeli University Faculty of Medicine

Career Start Year 2003

Number of shared co-authors 2

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 6

Guiomar Perez de Nanclares

Bioaraba Health Research Institute, Araba University Hospital

Career Start Year 1997

Number of shared co-authors 3

Andreas Zankl

The University of Sydney

Career Start Year 1997

Number of shared co-authors 14

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 6

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 2

H??lya Kayserili

Istanbul University

Career Start Year 1996

Number of shared co-authors 21

Ana Pati??o-Garc??a

Center for Applied Medical Research.

Career Start Year 1995

Number of shared co-authors 0

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 9

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 6

Rafa?? P??oski

Medical University of Warsaw

Career Start Year 1992

Number of shared co-authors 3

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 10

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 4

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 3

Jaime Cruz-Rojo

12 de Octubre Hospital

Career Start Year 1989

Number of shared co-authors 2

Patrick J Morrison

Belfast City Hospital

Career Start Year 1989

Number of shared co-authors 1

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 10

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 12

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 10

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 1

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 2

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 0

John J Mulvihill

University of Oklahoma

Career Start Year 1968

Number of shared co-authors 1

Gabriela M Repetto

Clinica Alemana Universidad del Desarrollo

Career Start Year 1964

Number of shared co-authors 1

row(s) 1 - 30 of 30

Evan E Eichler

University of Washington

Co-authored papers 4

Charles E Schwartz

Co-authored papers 4

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Co-authored papers 3

Claire Beneteau

Hopital Universitaire de Nantes

Co-authored papers 3

Elena Casiraghi

Universita degli Studi di Milano

Co-authored papers 3

Eric Courchesne

University of California

Co-authored papers 2

Karen Pierce

University of California

Co-authored papers 2

Ann Nordgren

Co-authored papers 2

Cindy Skinner

Co-authored papers 2

Alessandra Renieri

University of Siena

Co-authored papers 2

Gianpaolo Carrafiello

Foundation IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan

Co-authored papers 2

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 1

Fereydoun Hormozdiari

University of California davis

Co-authored papers 1

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Co-authored papers 1

Arjun Krishnan

Michigan State University

Co-authored papers 1

Jennifer Friedman

University of California, Rady Children's Hospital San Diego

Co-authored papers 1

Elide Miccinilli

Fondazione IRCCS Casa Sollievo della Sofferenza

Co-authored papers 1

Maria Cristina Digilio

Co-authored papers 1

Marco Frasca

Universita degli Studi di Milano

Co-authored papers 1

Sally Ann Lynch

University College Dublin

Co-authored papers 1

Alessandro Andrea Esposito

Co-authored papers 1

Stefano D'Arrigo

Fondazione IRCCS Istituto Neurologico Carlo Besta

Co-authored papers 1

Howard M Saal

Cincinnati Children's Hospital Medical Center

Co-authored papers 1

Eugen Boltshauser

Children's University Hospital

Co-authored papers 1

Justin T Reese

Lawrence Berkeley National Laboratory

Co-authored papers 1

Alessandro Rizzi

Milan University

Co-authored papers 1

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Co-authored papers 1

Maja Steinlin

Children's University Hospital, Bern University Hospital, University of Bern

Co-authored papers 1

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 1

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 1

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