Follow
Michele Iacomino
Michele Iacomino
Institute G. Gaslini, Genova
Verified email at virgilio.it
Title
Cited by
Cited by
Year
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7162021
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2302019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1852019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
1222019
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ...
The Lancet Neurology 17 (8), 699-708, 2018
892018
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
522020
A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy
G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabro, ...
Clinical genetics 76 (1), 91-101, 2009
512009
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission
HCA Lammertse, AA van Berkel, M Iacomino, RF Toonen, P Striano, ...
Brain 143 (2), 441-451, 2020
472020
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
CE Niturad, D Lev, VM Kalscheuer, A Charzewska, J Schubert, ...
Brain 140 (11), 2879-2894, 2017
462017
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
362021
Brain organoids as model systems for genetic neurodevelopmental disorders
S Baldassari, I Musante, M Iacomino, F Zara, V Salpietro, P Scudieri
Frontiers in Cell and Developmental Biology 8, 590119, 2020
362020
Novel GABRG2 mutations cause familial febrile seizures
M Boillot, M Morin-Brureau, F Picard, S Weckhuysen, V Lambrecq, ...
Neurology: Genetics 1 (4), e35, 2015
352015
Loss of Wwox perturbs neuronal migration and impairs early cortical development
M Iacomino, S Baldassari, Y Tochigi, K Kośla, F Buffelli, A Torella, ...
Frontiers in Neuroscience 14, 644, 2020
292020
New trends and most promising therapeutic strategies for epilepsy treatment
A Riva, A Golda, G Balagura, E Amadori, MS Vari, G Piccolo, M Iacomino, ...
Frontiers in neurology 12, 753753, 2021
282021
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
G Balagura, J Xian, A Riva, F Marchese, B Ben Zeev, L Rios, D Sirsi, ...
Neurology: Genetics 8 (3), e676, 2022
252022
Genotype-phenotype correlations in neurofibromatosis type 1: a single-center cohort study
M Scala, I Schiavetti, F Madia, C Chelleri, G Piccolo, A Accogli, A Riva, ...
Cancers 13 (8), 1879, 2021
252021
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
A Accogli, M Iacomino, F Pinto, A Orsini, MS Vari, R Selmi, A Torella, ...
Neurology: Genetics 3 (5), e179, 2017
252017
Exome sequencing fails to identify the genetic cause of Aicardi syndrome
C Lund, P Striano, HS Sorte, P Parisi, M Iacomino, Y Sheng, MD Vigeland, ...
Molecular syndromology 7 (4), 234-238, 2016
242016
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ...
Brain 144 (5), 1422-1434, 2021
232021
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 …
E Sondo, F Cresta, C Pastorino, V Tomati, V Capurro, E Pesce, M Lena, ...
International Journal of Molecular Sciences 23 (6), 3175, 2022
222022
The system can't perform the operation now. Try again later.
Articles 1–20