| Riboflavin transporter deficiency E Cali, N Dominik, A Manole, H Houlden | 18 | 2021 |
| Epileptic phenotypes associated with SNAREs and related synaptic vesicle exocytosis machinery E Cali, C Rocca, V Salpietro, H Houlden Frontiers in Neurology 12, 806506, 2022 | 17 | 2022 |
| Loss of neuron navigator 2 impairs brain and cerebellar development A Accogli, S Lu, I Musante, P Scudieri, JA Rosenfeld, M Severino, ... The Cerebellum 22 (2), 206-222, 2023 | 16 | 2023 |
| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ... Genetics in Medicine 25 (1), 76-89, 2023 | 15 | 2023 |
| Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy F Magrinelli, E Cali, VL Braga, U Yis, H Tomoum, H Shamseldin, ... Movement disorders clinical practice 9 (2), 218-228, 2022 | 15 | 2022 |
| Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy J Park, A Tucci, V Cipriani, G Demidov, C Rocca, J Senderek, M Butryn, ... Genetics in Medicine 24 (10), 2079-2090, 2022 | 13 | 2022 |
| The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 A Saffari, M Kellner, C Jordan, H Rosengarten, A Mo, B Zhang, O Strelko, ... Brain 146 (5), 2003-2015, 2023 | 12 | 2023 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 11 | 2023 |
| Prominent and regressive brain developmental disorders associated with Nance-Horan syndrome C Casto, V Dipasquale, I Ceravolo, A Gambadauro, E Aliberto, K Galletta, ... Brain Sciences 11 (9), 1150, 2021 | 11 | 2021 |
| Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly C Klöckner, JP Fernández-Murray, M Tavasoli, H Sticht, ... Brain 145 (6), 1916-1923, 2022 | 9 | 2022 |
| The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications G Scorrano, E David, E Calì, R Chimenz, S La Bella, A Di Ludovico, ... Genes 14 (12), 2111, 2023 | 8 | 2023 |
| NOTCH2NLC intermediate-length repeat expansion and Parkinson's disease in patients of European descent WY Yau, R Sullivan, C Rocca, E Cali, J Vandrovcova, NW Wood, ... Annals of Neurology 89 (3), 633-635, 2021 | 8 | 2021 |
| Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities E Cali, M Suri, M Scala, MP Ferla, S Alavi, EA Faqeih, EK Bijlsma, ... Genetics in Medicine 25 (1), 135-142, 2023 | 7 | 2023 |
| A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster GD Mangano, V Antona, E Calì, A Fontana, V Salpietro, H Houlden, ... Seizure 97, 20-22, 2022 | 7 | 2022 |
| A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children G Scorrano, G D'Onofrio, A Accogli, M Severino, R Buchert, U Kotzaeridou, ... Pediatric Neurology 149, 84-92, 2023 | 5 | 2023 |
| Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders SM Saadi, E Cali, LB Khalid, H Yousaf, G Zafar, HN Khan, M Sher, B Vona, ... Genes 14 (7), 1404, 2023 | 5 | 2023 |
| A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease E Calì, SJ Lin, C Rocca, Y Sahin, A Al Shamsi, S El Chehadeh, ... Genetics in Medicine 24 (10), 2194-2203, 2022 | 5 | 2022 |
| Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ... The American Journal of Human Genetics 111 (1), 200-210, 2024 | 3 | 2024 |
| Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders R Maroofian, R Kaiyrzhanov, E Cali, M Zamani, MS Zaki, M Ferla, ... Brain 146 (12), 5031-5043, 2023 | 3 | 2023 |
| Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders P Borgia, S Baldassari, N Pedemonte, E Alkhunaizi, G D’Onofrio, ... Orphanet Journal of Rare Diseases 17 (1), 286, 2022 | 3 | 2022 |
