| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate … E Di Gregorio, E Riberi, EF Belligni, E Biamino, M Spielmann, U Ala, ... Clinical genetics 92 (4), 415-422, 2017 | 47 | 2017 |
| Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe F Sirchia, D Carrieri, S Dheensa, C Benjamin, H Kayserili, C Cordier, ... European Journal of Human Genetics 26 (7), 946-954, 2018 | 40 | 2018 |
| ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development R Zhang, M Knapp, K Suzuki, D Kajioka, JM Schmidt, J Winkler, Ö Yilmaz, ... Scientific reports 7 (1), 42170, 2017 | 36 | 2017 |
| Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome A Gazzin, D Carli, F Sirchia, C Molinatto, S Cardaropoli, G Palumbo, ... American Journal of Medical Genetics Part A 179 (9), 1691-1702, 2019 | 32 | 2019 |
| Genomic studies in a large cohort of hearing impaired Italian patients revealed several new alleles, a rare case of uniparental disomy (UPD) and the importance to search for … A Morgan, S Lenarduzzi, S Cappellani, V Pecile, M Morgutti, E Orzan, ... Frontiers in Genetics 9, 681, 2018 | 27 | 2018 |
| When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort A Scott, N Di Giosaffatte, V Pinna, P Daniele, S Corno, V D’Ambrosio, ... Genetics in Medicine 23 (6), 1116-1124, 2021 | 26 | 2021 |
| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy N Voisin, RE Schnur, S Douzgou, SM Hiatt, CF Rustad, NJ Brown, DL Earl, ... The American Journal of Human Genetics 108 (5), 857-873, 2021 | 26 | 2021 |
| Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient E Piro, G Serra, V Antona, M Giuffrè, E Giorgio, F Sirchia, IAM Schierz, ... Italian Journal of Pediatrics 46, 1-7, 2020 | 26 | 2020 |
| Prevalence and phenotype of the c. 1529C> T SPG 7 variant in adult‐onset cerebellar ataxia in Italy C Mancini, E Giorgio, A Rubegni, L Pradotto, S Bagnoli, E Rubino, ... European Journal of Neurology 26 (1), 80-86, 2019 | 19 | 2019 |
| A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q F Sirchia, E Di Gregorio, G Restagno, E Grosso, P Pappi, F Talarico, ... European Journal of Medical Genetics 60 (4), 224-227, 2017 | 13 | 2017 |
| The usefulness of a targeted next generation sequencing gene panel in providing molecular diagnosis to patients with a broad Spectrum of neurodevelopmental disorders S Mellone, C Puricelli, D Vurchio, S Ronzani, S Favini, A Maruzzi, ... Frontiers in genetics 13, 875182, 2022 | 12 | 2022 |
| Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) F Pettinato, G Mostile, R Battini, D Martinelli, A Madeo, E Biamino, ... The Cerebellum 20, 596-605, 2021 | 11 | 2021 |
| A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 E Giorgio, E Rubino, A Bruselles, S Pizzi, I Rainero, S Duca, F Sirchia, ... European Journal of Endocrinology 177 (5), K21-K27, 2017 | 11 | 2017 |
| A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple … E Giorgio, F Sirchia, M Bosco, NLM Sobreira, ... American Journal of Medical Genetics Part A 179 (2), 306-311, 2019 | 9 | 2019 |
| Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques D Carli, M Operti, S Russo, G Cocchi, D Milani, C Leoni, E Prada, D Melis, ... Clinical Genetics 102 (4), 314-323, 2022 | 8 | 2022 |
| First‐trimester absent nasal bone: is it a predictive factor for pathogenic CNV s in the low‐risk population? I Fantasia, T Stampalija, F Sirchia, I Della Pietà, C Ottaviani Giammarco, ... Prenatal Diagnosis 40 (12), 1563-1568, 2020 | 8 | 2020 |
| Interface gain-of-function mutations in TLR7 cause systemic and neuro-inflammatory disease C David, M Badonyi, R Kechiche, A Insalaco, M Zecca, F De Benedetti, ... Journal of Clinical Immunology 44 (2), 60, 2024 | 7 | 2024 |
| Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency F Sirchia, E Giorgio, L Cucinella, EM Valente, RE Nappi Journal of Assisted Reproduction and Genetics 39 (5), 1177-1181, 2022 | 6 | 2022 |
| Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report D Nistico’, F Guidolin, CO Navarra, M Bobbo, A Magnolato, AP D’Adamo, ... BMC pediatrics 20, 1-7, 2020 | 6 | 2020 |
| CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes E Di Gregorio, E Riberi, EF Belligni, E Biamino, M Spielmann, ALA Ugo, ... Clinical Genetics, 2017 | 6 | 2017 |
