Concepedia

Michele Pinelli

MP

47

Publications

2.3K

Citations

27

H-Index

2006

Active since

Affiliations

Telethon Institute Of Genetics And Medicine(Current)

University of Naples Federico II

Federico II University Hospital

University of Campania "Luigi Vanvitelli"

Istituti di Ricovero e Cura a Carattere Scientifico

Michele Pinelli is an author at Telethon Institute Of Genetics And Medicine specializing in medicine, genetics, and genomics.

Top concepts

MedicineGeneticsGenomicsNeurologyNeurogeneticsGene ExpressionMolecular GeneticsNeuroscienceBioinformaticsGenetic Epidemiology

Publications per year

2006–2024

47

Publications

47

Parent-of-origin-specific signatures of de novo mutations

Jakob M. Goldmann, Wendy S.W. Wong, Michele Pinelli et al. · Nature Genetics · 2016 · 359 citations

Somatic Variant, Genetics, Molecular Genetics +5

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint et al. · The American Journal of Human Genetics · 2015 · 255 citations · Full text

Underrecognized Source, Somatic Variant, Next-generation Sequencing +9

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

Marianthi Karali, Maria Persico, Margherita Mutarelli et al. · Nucleic Acids Research · 2016 · 120 citations · Full text

Bioinformatics, Developmental Biology, Ophthalmology +13

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients

Imma Castaldo, Michele Pinelli, Antonella Monticelli et al. · Journal of Medical Genetics · 2008 · 111 citations

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 105 citations · Full text

Functional Genomics, Medicine, Genetics +6

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