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Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy E Biagini, I Olivotto, M Iascone, MI Parodi, F Girolami, G Frisso, C Autore, ... The American journal of cardiology 114 (5), 769-776, 2014 | 92 | 2014 |
Association between 5, 10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects S Storti, S Vittorini, MR Iascone, M Sacchelli, A Collavoli, A Ripoli, ... Walter de Gruyter 41 (3), 276-280, 2003 | 84 | 2003 |
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ... European Journal of Human Genetics 23 (3), 354-362, 2015 | 68 | 2015 |
DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes S Choufani, WT Gibson, AL Turinsky, BHY Chung, T Wang, K Garg, ... The American Journal of Human Genetics 106 (5), 596-610, 2020 | 64 | 2020 |
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 62 | 2021 |
Further delineation of Malan syndrome M Priolo, D Schanze, K Tatton‐Brown, PA Mulder, J Tenorio, K Kooblall, ... Human mutation 39 (9), 1226-1237, 2018 | 61 | 2018 |
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 60 | 2021 |
Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes P Benzoni, G Campostrini, S Landi, V Bertini, E Marchina, M Iascone, ... Cardiovascular Research 116 (6), 1147-1160, 2020 | 58 | 2020 |
Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing E Nicastro, A Di Giorgio, D Marchetti, C Barboni, A Cereda, M Iascone, ... The Journal of Pediatrics 211, 54-62. e4, 2019 | 52 | 2019 |
De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies K Platzer, H Sticht, SL Edwards, W Allen, KM Angione, MT Bonati, ... The American Journal of Human Genetics 104 (2), 203-212, 2019 | 52 | 2019 |
Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 51 | 2019 |
Measurement of brain natriuretic peptide in plasma samples and cardiac tissue extracts by means of an immunoradiometric assay method S Del Ry, A Clerico, D Giannessi, MG Andreassi, R Caprioli, MR Iascone, ... Scandinavian journal of clinical and laboratory investigation 60 (2), 81-90, 2000 | 45 | 2000 |
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 41 | 2020 |
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ... The American Journal of Human Genetics 107 (1), 164-172, 2020 | 40 | 2020 |