| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 204 | 2020 |
| Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases L Grassi, R Alfonsi, F Francescangeli, M Signore, ML De Angelis, ... Cell death & disease 10 (3), 201, 2019 | 123 | 2019 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 99 | 2022 |
| Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ... The American Journal of Human Genetics 103 (4), 621-630, 2018 | 88 | 2018 |
| Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-onset encephalopathy E Flex, M Niceta, S Cecchetti, I Thiffault, MG Au, A Capuano, E Piermarini, ... The American Journal of Human Genetics 99 (4), 962-973, 2016 | 79 | 2016 |
| Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum M Motta, L Pannone, F Pantaleoni, G Bocchinfuso, FC Radio, S Cecchetti, ... The American Journal of Human Genetics 107 (3), 499-513, 2020 | 68 | 2020 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European journal of human genetics 29 (9), 1325-1331, 2021 | 67 | 2021 |
| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 67 | 2019 |
| The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes L Travaglini, C Aiello, F Stregapede, A D’Amico, V Alesi, A Ciolfi, ... Neurogenetics 19, 111-121, 2018 | 58 | 2018 |
| Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature A Ciolfi, E Aref-Eshghi, S Pizzi, L Pedace, E Miele, J Kerkhof, E Flex, ... Clinical epigenetics 12, 1-11, 2020 | 54 | 2020 |
| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ... The American Journal of Human Genetics 108 (1), 115-133, 2021 | 43 | 2021 |
| Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A E Stellacci, R Onesimo, A Bruselles, S Pizzi, D Battaglia, C Leoni, ... American Journal of Medical Genetics Part A 170 (9), 2389-2393, 2016 | 37 | 2016 |
| Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency ML Dentici, S Barresi, M Niceta, F Pantaleoni, S Pizzi, B Dallapiccola, ... Clinical Genetics 93 (2), 401-407, 2018 | 32 | 2018 |
| Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome M Niceta, K Margiotti, MC Digilio, V Guida, A Bruselles, S Pizzi, A Ferraris, ... Clinical genetics 93 (3), 632-639, 2018 | 30 | 2018 |
| Infantile-onset syndromic cerebellar ataxia and CACNA1G mutations S Barresi, ML Dentici, F Manzoni, E Bellacchio, E Agolini, S Pizzi, A Ciolfi, ... Pediatric neurology 104, 40-45, 2020 | 26 | 2020 |
| Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile A Ciolfi, A Foroutan, A Capuano, L Pedace, L Travaglini, S Pizzi, ... Clinical epigenetics 13 (1), 157, 2021 | 24 | 2021 |
| Upfront treatment with mTOR inhibitor everolimus in pediatric low‐grade gliomas: A single‐center experience A Cacchione, M Lodi, A Carai, E Miele, M Tartaglia, G Megaro, ... International journal of cancer 148 (10), 2522-2534, 2021 | 20 | 2021 |
| NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations D Carli, E Giorgio, F Pantaleoni, A Bruselles, S Barresi, E Riberi, ... Human mutation 40 (6), 721-728, 2019 | 20 | 2019 |
| TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations M Niceta, S Barresi, F Pantaleoni, R Capolino, ML Dentici, A Ciolfi, S Pizzi, ... European journal of medical genetics 62 (6), 103534, 2019 | 20 | 2019 |
| A shared protocol for porcine surfactant use in pediatric acute respiratory distress syndrome: a feasibility study A Wolfler, M Piastra, A Amigoni, P Santuz, E Gitto, E Rossetti, C Tinelli, ... BMC pediatrics 19, 1-10, 2019 | 19 | 2019 |
