| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 115 | 2023 |
| Transient intestinal colonization by multiple phenotypes of Aeromonas species during the first week of life G Pazzaglia, JR Escalante, RB Sack, C Rocca, V Benavides Journal of clinical microbiology 28 (8), 1842-1846, 1990 | 22 | 1990 |
| 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 | 14 | 2022 |
| Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4 Z Chen, EK Gustavsson, H Macpherson, C Anderson, C Clarkson, ... Movement Disorders 39 (3), 486-497, 2024 | 12 | 2024 |
| Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias P Cunha, E Petit, M Coutelier, G Coarelli, C Mariotti, J Faber, ... The American Journal of Human Genetics 110 (7), 1098-1109, 2023 | 9 | 2023 |
| 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 | 9 | 2023 |
| 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 | 9 | 2022 |
| Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder F Magrinelli, C Rocca, R Simone, R Zenezini Chiozzi, Z Jaunmuktane, ... Movement Disorders 38 (2), 347-353, 2023 | 8 | 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 | 8 | 2023 |
| GGPS1‐associated muscular dystrophy with and without hearing loss R Kaiyrzhanov, L Perry, C Rocca, MS Zaki, H Hosny, ... Annals of clinical and translational neurology 9 (9), 1465-1474, 2022 | 8 | 2022 |
| 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 |
| Reactogenicity, safety and disease flares following BNT162b2 mRNA COVID-19 vaccine in patients with chronic immune-inflammatory arthritis treated with biological and targeted … L De Stefano, S Balduzzi, L Bogliolo, B D’Onofrio, M di Lernia, E Mauric, ... Clin Exp Rheumatol 41 (3), 667-675, 2023 | 6 | 2023 |
| Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities … DG Calame, I Herman, R Maroofian, AE Marshall, KC Donis, JM Fatih, ... Annals of neurology 92 (2), 304-321, 2022 | 6 | 2022 |
| Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples R Wijngaard, G Demidov, L O’Gorman, J Corominas-Galbany, B Yaldiz, ... European Journal of Human Genetics 32 (2), 200-208, 2024 | 5 | 2024 |
| A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability B Jadhav, P Garg, JJFA van Vugt, K Ibanez, D Gagliardi, W Lee, ... medRxiv, 2023.05. 03.23289461, 2023 | 5* | 2023 |
| A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2 S Chepurwar, SM von Loh, DC Wigger, J Neef, P Frommolt, D Beutner, ... Human Molecular Genetics 32 (7), 1083-1089, 2023 | 4 | 2023 |
| Biallelic loss of EMC10 leads to mild to severe intellectual disability R Kaiyrzhanov, C Rocca, M Suri, S Gulieva, MS Zaki, NZ Henig, K Siquier, ... Annals of Clinical and Translational Neurology 9 (7), 1080-1089, 2022 | 4 | 2022 |
| Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder G D’Onofrio, A Accogli, M Severino, H Caliskan, T Kokotović, A Blazekovic, ... Human Genetics 142 (7), 909-925, 2023 | 3 | 2023 |
| Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review F Magrinelli, KP Bhatia, M Beiraghi Toosi, F Arab, EG Karimiani, ... Movement Disorders Clinical Practice 10 (1), 101-108, 2023 | 3 | 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 | 3 | 2022 |
