| Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24. 3 microdeletion syndromes: 12 new cases F Novara, B Rinaldi, SM Sisodiya, A Coppola, S Giglio, F Stanzial, ... European Journal of Human Genetics 25 (6), 694-701, 2017 | 45 | 2017 |
| Small supernumerary marker chromosomes: a legacy of trisomy rescue? NE Kurtas, L Xumerle, L Leonardelli, M Delledonne, A Brusco, ... Human mutation 40 (2), 193-200, 2019 | 35 | 2019 |
| Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan–Herndon–Dudley syndrome F Novara, S Groeneweg, E Freri, M Estienne, P Reho, S Matricardi, ... Human mutation 38 (3), 260-264, 2017 | 35 | 2017 |
| De novo unbalanced translocations have a complex history/aetiology MC Bonaglia, NE Kurtas, E Errichiello, S Bertuzzo, S Beri, MM Mehrjouy, ... Human Genetics 137, 817-829, 2018 | 24 | 2018 |
| GRN Mutations are Associated with Lewy body dementia P Reho, S Koga, Z Shah, R Chia, ... Movement Disorders 37 (9), 1943-1948, 2022 | 5 | 2022 |
| Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome A Provenzano, V Palazzo, P Reho, A Pagliazzi, A Marozza, A Farina, ... Prenatal Diagnosis 40 (7), 905-908, 2020 | 5 | 2020 |
| WES in 42 trios of syndromic and isolated Chiari malformation type 1: how to define the genetic cause in a high clinical heterogeneous condition A La Barbera, A Provenzano, L Tiberi, R Artuso, V Palazzo, P Reho, ... European Journal Of Human Genetics 27, 97-98, 2019 | 1 | 2019 |
| Genome sequence analyses identify novel risk loci for multiple system atrophy R Chia, A Ray, Z Shah, J Ding, P Ruffo, M Fujita, V Menon, ... Neuron, 2024 | | 2024 |
| Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci E Bayram, P Reho, I Litvan, International LBD Genomics Consortium, ... npj Parkinson's Disease 10 (1), 39, 2024 | | 2024 |
| Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies P Reho, S Saez-Atienzar, P Ruffo, S Solaiman, Z Shah, R Chia, K Kaivola, ... Communications biology 7 (1), 35, 2024 | | 2024 |
| Evaluation of SORL1 in Lewy body dementia identifies no significant associations A Ray, P Reho, Z Shah, SW Scholz, ... Movement disorders: official journal of the Movement Disorder Society 37 (11 …, 2022 | | 2022 |
| Deleterious GRN mutations: a new player in the etiology of Lewy body dementia P Reho, S Koga, Z Shah, R Chia, R Rademakers, C Dalgard, B Boeve, ... MOVEMENT DISORDERS 37, S524-S524, 2022 | | 2022 |
| Differential methylation signatures in Lewy body dementia P Reho, TG Beach, GE Serrano, KL Newell, HP Easwaran, JC Troncoso, ... MOVEMENT DISORDERS 36, S93-S94, 2021 | | 2021 |
| Costitutional chromoanasynthesis: a familiar chromosome explosion P Reho, N Kurtas, L Tiberi, D Vergani, D Formicola, F Vanderwert, ... European Journal Of Human Genetics 28 (SUPPL 1), 576-577, 2020 | | 2020 |
| Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome A Provenzano, V Palazzo, P Reho, A Pagliazzi, A Marozza, A Farina, ... Prenatal Diagnosis 40 (7), 905-908, 2020 | | 2020 |
| Biallelic LZTR1 mutation in a patient with non-classical Noonan phenotype L Tiberi, A La Barbera, A Provenzano, P Reho, E Bosi, M Bozzola, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1259-1260, 2019 | | 2019 |
| Serum leptin, adiponectin and insulin-like growth factor I during infancy were associated with markers of metabolic syndrome at six years of age A Pagliazzi, R Artuso, G Traficante, L Giunti, E Bosi, A Provenzano, ... HORMONE RESEARCH IN PAEDIATRICS 91, 224-224, 2019 | | 2019 |
| Clinical and Genetic Profiles of Young Adult Patients with Myelodysplastic Syndromes E Attardi, A Provenzano, P Reho, MG Raddi, A Fani, E Masala, A Brogi, ... Clinical Lymphoma, Myeloma and Leukemia 19, S347, 2019 | | 2019 |
| Cytogenomics NGS SNP array" for detection of genomic rearrangements on cell free DNA A Provenzano, P Reho, D Vergani, A La Barbera, L Tiberi, M Pantaleo, ... MOLECULAR CYTOGENETICS 12, 2019 | | 2019 |
| Whole exome sequencing to detect the cause of early onset nephrocalcinosis F Peluso, V Palazzo, L Dosa, G Traficante, S Landini, R Artuso, ... European Journal Of Human Genetics 27, 83-83, 2019 | | 2019 |
