Paolo Prontera - Concepedia

Author

Paolo Prontera

Also Known As

Alessandra Ferlini, Aubrey Milunsky, Charlotte W. Ockeloen, Elena Pasini, Elizabeth Blue, Emilio Ciusani, Helena Caria, P Prontera, P. Prontera, Paolo Prontera

162

Publications

3.3K

Citations

H-Index

Concepts

All Affiliations

University of Perugia Istituti di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza Azienda Ospedaliera di Perugia University of Turin

About

Paolo Prontera is an author at University of Perugia specializing in genetics, medicine, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	20	823
2	Public Health	2	2	71
3	Social Sciences	2	2	88
4	Natural Sciences	1	1	73
5	Allergy	1	1	15

Paolo Prontera

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Genetics in Medicine	2018	218
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
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages Antonio Adamo, Sina Atashpaz, Pierre‐Luc Germain, Nature Genetics Transcriptional RegulationInduced Pluripotent Stem CellMedicineGeneticsTranscriptional Programs	2014	128
A molecular and clinical study of Larsen syndrome caused by mutations in <i>FLNB</i> Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Journal of Medical Genetics	2006	125
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Human Mutation ImmunodeficienciesGeneticsPathologyDisease Gene IdentificationKmt2d Target Genes	2014	103
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients Lucia Micale, Bartolomeo Augello, Carmela Fusco, Orphanet Journal of Rare Diseases	2011	98
Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Journal of Inherited Metabolic Disease	2015	87
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
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome Nina Bögershausen, I-Chun Tsai, Esther Pohl, Journal of Clinical Investigation	2015	86
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis Paolo Prontera, Barbara Buldrini, Vincenzo Aiello, Prenatal Diagnosis	2006	79

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