Shahida Moosa
Shahida Moosa
Associate Professor of Medical Genetics
Verified email at sun.ac.za
Title
Cited by
Cited by
Year
Altered FGF signalling in congenital craniofacial and skeletal disorders
S Moosa, B Wollnik
Seminars in cell & developmental biology 53, 115-125, 2016
322016
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
262014
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
222016
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), 1-11, 2019
212019
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
202019
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
192016
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
172017
Sirenomelia: four further cases with discussion of associated upper limb defects
S Moosa, LA Lambie, A Krause
Clinical dysmorphology 21 (3), 124-130, 2012
152012
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
142013
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
132017
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
122018
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
72017
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
62016
Floating-Harbor syndrome: presentation of the first Romanian patient with a SRCAP mutation and review of the literature
M Budisteanu, N Bögershausen, SM Papuc, S Moosa, M Thoenes, D Riga, ...
Balkan journal of medical genetics: BJMG 21 (1), 83, 2018
32018
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, 1-14, 2021
22021
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P. R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD
S Sahin, H Ograg, EA Aslan, AB Akcan, MK Turkmen, S Moosa, ...
Genetic Counseling 27 (4), 513, 2016
22016
Perinatal lethal osteogenesis imperfecta
S Moosa
South African Journal of Radiology 16 (4), 141-142, 2012
22012
Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum
S Moosa, B Loeys, J Altmüller, G Mortier, P Nürnberg, Y Li, B Wollnik, ...
Clinical genetics 92 (3), 342-343, 2017
12017
Pseudoachondroplasia: report on a South African family: pictorial essay
S Moosa, G Nishimura
SA Journal of Radiology 17 (2), 65-67, 2013
12013
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Journal of Human Genetics, 2021
2021
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Articles 1–20