Michele Iacomino - Concepedia

Author

Michele Iacomino

Also Known As

Anne Polvi, Federico Zara, Iacomino, M., Iacomino, Michele, M Iacomino, M. Iacomino, Marzia Ognibene, Michele Iacomino, Michelle Iacomino, Po-Chen Hung

103

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

Istituto Giannina Gaslini University of Genoa Istituti di Ricovero e Cura a Carattere Scientifico University College London National Hospital for Neurology and Neurosurgery

About

Michele Iacomino is an author at Istituto Giannina Gaslini specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	14	1.1K
2	Social Sciences	3	3	111
3	Natural Sciences	2	2	539
4	Public Health	2	2	76
5	Biochemistry	1	1	46

Michele Iacomino

Publications

Citations

H-Index

Page 1

	Year	Citations
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, Nature Communications Epilepsy TherapiesGeneticsGenetic EpidemiologyMolecular GeneticsMonogenic Epilepsy Genes	2018	493
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, The American Journal of Human Genetics Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder	2019	298
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Mark Corbett, Thessa Kroes, Liana Veneziano, Nature Communications	2019	154
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission Hanna C. A. Lammertse, Annemiek A. van Berkel, Michele Iacomino, Brain Neurological DisorderSynaptic TransmissionGeneticsStxbp1 GeneDisease Gene Identification	2019	61
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, The American Journal of Human Genetics Mendelian DisorderFemale InfertilityWhole-exome Sequencing StudyGenetic DisorderGenetics	2021	58
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features Cristina Elena Niturad, Dorit Lev, Vera M. Kalscheuer, Brain	2017	49
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs Elvira Sondo, Federico Cresta, Cristina Pastorino, International Journal of Molecular Sciences	2022	47
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study Marcello Scala, Irene Schiavetti, Francesca Madia, Cancers	2021	46
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Brain GeneticsBiallelic Hpdl VariantsPathologyMolecular BiologyDisease Gene Identification	2021	46

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