| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 98 | 2022 |
| Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S Moosa, GL Yamamoto, L Garbes, K Keupp, A Beleza-Meireles, ... The American Journal of Human Genetics 105 (4), 836-843, 2019 | 50 | 2019 |
| Altered FGF signalling in congenital craniofacial and skeletal disorders S Moosa, B Wollnik Seminars in cell & developmental biology 53, 115-125, 2016 | 48 | 2016 |
| Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome MS Hussain, A Battaglia, S Szczepanski, E Kaygusuz, MR Toliat, ... The American Journal of Human Genetics 95 (5), 622-632, 2014 | 46 | 2014 |
| Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly N Lahrouchi, A George, I Ratbi, R Schneider, SC Elalaoui, S Moosa, ... Nature communications 10 (1), 1180, 2019 | 36 | 2019 |
| Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum S Moosa, MG Obregon, J Altmüller, H Thiele, P Nürnberg, V Fano, ... American Journal of Medical Genetics Part A 170 (5), 1295-1301, 2016 | 27 | 2016 |
| Thyroid dysfunction in a cohort of South African children with Down syndrome S Moosa, DG Segal, AL Christianson, NE Gregersen South African medical journal 103 (12), 966-970, 2013 | 27 | 2013 |
| High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses A Hammarsjö, M Pettersson, D Chitayat, A Handa, BM Anderlid, ... Journal of Human Genetics 66 (10), 995-1008, 2021 | 26 | 2021 |
| Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta S Moosa, BHY Chung, JYL Tung, J Altmüller, H Thiele, P Nürnberg, ... Clinical genetics 89 (4), 517-519, 2016 | 25 | 2016 |
| Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta M Rodriguez Celin, S Moosa, V Fano Annals of Human Genetics 82 (6), 477-481, 2018 | 23 | 2018 |
| Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2 S Moosa, A Haagerup, PA Gregersen, KK Petersen, J Altmüller, H Thiele, ... American Journal of Medical Genetics Part A 173 (4), 1102-1108, 2017 | 23 | 2017 |
| Sirenomelia: four further cases with discussion of associated upper limb defects S Moosa, LA Lambie, A Krause Clinical Dysmorphology 21 (3), 124-130, 2012 | 17 | 2012 |
| Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism S Moosa, H Böhrer‐Rabel, J Altmüller, F Beleggia, P Nürnberg, Y Li, ... American Journal of Medical Genetics Part A 173 (1), 264-267, 2017 | 16 | 2017 |
| Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome S Moosa, J Altmüller, T Lyngbye, R Christensen, Y Li, P Nürnberg, G Yigit, ... Molecular Genetics & Genomic Medicine 5 (5), 580-584, 2017 | 14 | 2017 |
| A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival S Moosa, V Fano, MG Obregon, J Altmüller, H Thiele, P Nürnberg, ... American Journal of Medical Genetics Part A 170 (9), 2436-2439, 2016 | 12 | 2016 |
| Novel hemizygous loss-of-function variant in NONO identified in a South African boy KC Coetzer, S Moosa American journal of medical genetics. Part A, 2021 | 10 | 2021 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv, 2023 | 9 | 2023 |
| Perspectives on the future of dysmorphology BD Solomon, MP Adam, CT Fong, KM Girisha, JG Hall, ACE Hurst, ... American Journal of Medical Genetics Part A 191 (3), 659-671, 2023 | 9 | 2023 |
| Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study F Essajee, M Urban, L Smit, JM Wilmshurst, R Solomons, R van Toorn, ... Seizure 101, 197-204, 2022 | 9 | 2022 |
| Floating-Harbor syndrome: Presentation of the first Romanian patient with a mutation and review of the literature M Budisteanu, N Bögershausen, SM Papuc, S Moosa, M Thoenes, D Riga, ... Balkan Journal of Medical Genetics 21 (1), 83-86, 2018 | 8 | 2018 |
