Maria Piccione - Concepedia

Author

Maria Piccione

Also Known As

Elisabetta Pelo, Giancarlo Parenti, M Piccione, M. Piccione, MARIA PICCIONE, MOLLY R PICCIONE, Maria Piccione, Piccione M, Piccione, M., Piccione, Maria

201

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

University of Palermo Istituti di Ricovero e Cura a Carattere Scientifico University of Milan Ospedale Vincenzo Cervello University of Naples Federico II

About

Maria Piccione is an author at University of Palermo specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	23	847
2	Public Health	3	3	68
3	Social Sciences	3	3	189
4	Health Sciences	1	1	10
5	Nursing	1	1	42

Maria Piccione

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire Daniela Rusconi, Gloria Negri, Patrizia Colapietro, Human Genetics Molecular NeuroscienceRubinstein–taybi SyndromeDisease MechanismGenetic DisorderMendelian Disorder	2015	86
Bipolar disorders and affective temperaments: A national family study testing the “endophenotype” and “subaffective” theses using the TEMPS-A Buenos Aires Gustavo Vázquez, Clara Kahn, Claudia E. Schiavo, Journal of Affective Disorders PsychiatryMood SymptomDepressionPsychologyNational Family Study	2007	83
Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Journal of Medical Genetics	2015	80
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Michael A. Levy, Raissa Relator, Haley McConkey, Human Mutation Epigenetic ChangeGeneticsDna MethylationGenetic SyndromesSynaptic Signaling	2022	76
<i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality Dorothea Bornholdt, Frank Oeffner, Arne König, Human Mutation Developmental BiologySomatic VariantMendelian DisorderGenetic DisorderMedicine	2009	74
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment Alister P. W. Funnell, Paolo Prontera, Valentina Ottaviani, Blood	2015	73
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C Karen W. Gripp, Elizabeth Hopkins, Katia Sol‐Church, American Journal of Medical Genetics Part A	2011	68
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli, Journal of Medical Genetics	2011	66
14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly Maria Piccione, Gregorio Serra, V Consiglio, American Journal of Medical Genetics Part A	2012	62

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