| A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, blood-2015-12-688267, 2016 | 192 | 2016 |
| Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies K Belaya, PM Rodríguez Cruz, WW Liu, S Maxwell, S McGowan, ... Brain 138 (9), 2493-2504, 2015 | 134 | 2015 |
| Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy M Bertoli, G Biasini, MT Calignano, G Celani, G De Grossi, MC Digilio, ... Journal of Intellectual Disability Research 55 (8), 801-820, 2011 | 112 | 2011 |
| Identification of CANT1 mutations in Desbuquois dysplasia C Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ... The American Journal of Human Genetics 85 (5), 706-710, 2009 | 98 | 2009 |
| Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-years period M Sframeli, A Sarkozy, M Bertoli, G Astrea, J Hudson, M Scoto, R Mein, ... Neuromuscular Disorders, 2017 | 95 | 2017 |
| Brown tumour in a patient with secondary hyperparathyroidism resistant to medical therapy: case report on successful treatment after subtotal parathyroidectomy N Di Daniele, S Condo, M Ferrannini, M Bertoli, V Rovella, L Di Renzo, ... International journal of endocrinology 2009, 2009 | 74 | 2009 |
| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ... Genetics in Medicine, 1-11, 2020 | 71 | 2020 |
| Autosomal recessive primary microcephaly due to ASPM mutations: An update P Létard, S Drunat, Y Vial, S Duerinckx, A Ernault, D Amram, S Arpin, ... Human mutation, 2017 | 68 | 2017 |
| Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy E Harris, A Topf, R Barresi, J Hudson, H Powell, J Tellez, D Hicks, ... Orphanet Journal of Rare Diseases 12 (1), 151, 2017 | 53 | 2017 |
| Mandibuloacral dysplasia type A in childhood L Garavelli, MR D'Apice, F Rivieri, M Bertoli, A Wischmeijer, C Gelmini, ... American Journal of Medical Genetics Part A 149 (10), 2258-2264, 2009 | 47 | 2009 |
| The clinical presentation caused by truncating CHD8 variants S Douzgou, HW Liang, K Metcalfe, S Somarathi, M Tischkowitz, ... Clinical Genetics 96 (1), 72-84, 2019 | 46 | 2019 |
| The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients PJ Ostrowski, A Zachariou, C Loveday, A Beleza‐Meireles, M Bertoli, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 45 | 2019 |
| Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained … K Johnson, M Bertoli, L Phillips, A Töpf, P Van den Bergh, J Vissing, ... Skeletal Muscle 8 (1), 23, 2018 | 44 | 2018 |
| Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? V Straub, M Bertoli Neuromuscular Disorders 26 (2), 111-125, 2016 | 41 | 2016 |
| Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains E Harris, U Burki, C Marini-Bettolo, M Neri, C Scotton, J Hudson, M Bertoli, ... Neuromuscular Disorders, 2017 | 40 | 2017 |
| Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy P Torre, M Bertoli, S Di Giovanni, S Scommegna, C Conte, G Novelli, ... Journal of endocrinological investigation 28 (9), 657-662, 2005 | 34 | 2005 |
| Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency A Zawerton, C Mignot, A Sigafoos, PR Blackburn, A Haseeb, K Mcwalter, ... Genetics in Medicine 22 (3), 524-537, 2020 | 31 | 2020 |
| International retrospective natural history study of LMNA-related congenital muscular dystrophy R Ben Yaou, P Yun, I Dabaj, G Norato, S Donkervoort, H Xiong, ... Brain Communications, 2021 | 24 | 2021 |
| A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population S Perić, JN Glumac, A Töpf, D Savić-Pavićević, L Phillips, K Johnson, ... European Journal of Human Genetics 25 (5), 572-581, 2017 | 24 | 2017 |
| Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness K Johnson, A Töpf, M Bertoli, L Phillips, KG Claeys, VR Stojanovic, ... Orphanet Journal of Rare Diseases 12 (1), 173, 2017 | 22 | 2017 |
Volker StraubNewcastle UniversityVerified email at ncl.ac.uk
