| Aortic aneurysm/dissection and osteogenesis imperfecta: four new families and review of the literature M Balasubramanian, A Verschueren, S Kleevens, I Luyckx, M Perik, ... Bone 121, 191-195, 2019 | 26 | 2019 |
| DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability S Schirwani, K Metcalfe, B Wagner, I Berry, G Sobey, R Jewell European Journal of Medical Genetics 63 (4), 103798, 2020 | 21 | 2020 |
| Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1 S Schirwani, A Novelli, MC Digilio, D Bourn, V Wilson, C Roberts, ... European Journal of Medical Genetics 62 (4), 243-247, 2019 | 19 | 2019 |
| Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 S Schirwani, S Albaba, DA Carere, MJ Guillen Sacoto, F Milan Zamora, ... American Journal of Medical Genetics Part A 185 (11), 3446-3458, 2021 | 14 | 2021 |
| Exploring the association between SRPX2 variants and neurodevelopment: How causal is it? S Schirwani, V McConnell, J Willoughby, DDD Study, M Balasubramanian Gene 685, 50-54, 2019 | 13 | 2019 |
| Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability S Schirwani, E Wakeling, K Smith, DDD Study, M Balasubramanian American Journal of Medical Genetics Part A 176 (5), 1238-1244, 2018 | 13 | 2018 |
| SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series ST Williams, P Chatzikyriakou, PV Carroll, BM McGowan, A Velusamy, ... Clinical endocrinology 96 (4), 499-512, 2022 | 12 | 2022 |
| Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation S Schirwani, K Pysden, P Chetcuti, M Blyth Journal of Clinical Sleep Medicine 13 (11), 1359-1362, 2017 | 12 | 2017 |
| ASXL3-related disorder M Balasubramanian, S Schirwani | 11 | 2020 |
| Mosaicism in ASXL3-related syndrome: Description of five patients from three families S Schirwani, N Hauser, A Platt, S Punj, K Prescott, N Canham, S Mansour, ... European Journal of Medical Genetics 63 (6), 103925, 2020 | 11 | 2020 |
| Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype S Schirwani, E Woods, DA Koolen, CW Ockeloen, SA Lynch, K Kavanagh, ... American Journal of Medical Genetics Part A 191 (1), 29-36, 2023 | 6 | 2023 |
| Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy S Schirwani, A Sarkozy, R Phadke, AM Childs, R Mein, A Ismail, A Smith, ... Neuromuscular Disorders 31 (4), 359-366, 2021 | 5 | 2021 |
| Study DDD, Balasubramanian M S Schirwani, V McConnell, J Willoughby Exploring the association between SRPX2 variants and neurodevelopment: how …, 2019 | 5 | 2019 |
| Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK S Schirwani, FS van Dijk, M Cauldwell, RE Harrison, A Kraus, P Brennan, ... European Journal of Medical Genetics 65 (10), 104592, 2022 | 3 | 2022 |
| Homozygosity for the pathogenic RET hotspot variant p. Cys634Trp: A consanguineous family with MEN2A S Schirwani, S Fraser, T Mushtaq, P Chengot, LA Mavrogiannis, R Jewell, ... European Journal of Medical Genetics 64 (2), 104141, 2021 | 3 | 2021 |
| Genetics for paediatric radiologists S Schirwani, J Campbell Pediatric Radiology 50, 1680-1690, 2020 | 3 | 2020 |
| Clinical and molecular characterization of the first familial report of 1p32 microdeletion S Schirwani, K Smith, M Balasubramanian Clinical Dysmorphology 27 (2), 36-41, 2018 | 3 | 2018 |
| Coexistence of Multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1 gene S Schirwani, B Suarez, M Sommerlad, E Corden, G Belgi, D Eccles, ... Clinical and Experimental Dermatology, llad451, 2023 | | 2023 |
| Expanding the phenotype of ASXL3-related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 (vol 185A … S Schirwani, AJ Shadi, DA Carere, MJG Sacoto, FM Zamora, Y Si, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 191 (1), 310-310, 2023 | | 2023 |
| EP09. 10: Antenatal diagnosis of Smith‐Kingsmore syndrome. TR Everett, S English, S Schirwani, C Bass, H Cliffe, K Prescott Ultrasound in Obstetrics & Gynecology 60, 2022 | | 2022 |
Bart LoeysVerified email at uantwerpen.be
Bart LoeysVerified email at uantwerpen.be