Shahida Moosa

发表

Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism

P. Nürnberg, Shahida Moosa, Helena Böhrer-Rabel, 2017, American journal of medical genetics. Part A.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

A. Nordgren, D. Chitayat, J. Eisfeldt, 2021, Journal of Human Genetics.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study

Shahida Moosa, J. Wilmshurst, R. Solomons, 2022, Seizure.

Perspectives on the future of dysmorphology

P. Krawitz, B. Solomon, S. Phadke, 2022, American journal of medical genetics. Part A.

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical Genetics.

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

P. Nürnberg, Shahida Moosa, J. Altmüller, 2016, American journal of medical genetics. Part A.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

FAILURE ANALYSIS OF THE SULPHUR DIOXIDE TRANSPORTER PIPE TO THE DIFFUSION WATER PRODUCER TANK IN THE SUGAR PLANT OF MASHHAD

Afrasiabi Abbas, Zia Hoseinpoor Mehrdad, Mirzakhanzadeh Ziba, 2014 .

An audit of thyroid function tests in a cohort of South African children with Down Syndrome

Shahida Moosa, 2013 .

Sirenomelia: four further cases with discussion of associated upper limb defects

Shahida Moosa, A. Krause, L. Lambie, 2012, Clinical dysmorphology.

Altered FGF signalling in congenital craniofacial and skeletal disorders.

Shahida Moosa, B. Wollnik, 2016, Seminars in cell & developmental biology.

Thyroid dysfunction in a cohort of South African children with Down syndrome.

Shahida Moosa, N. Gregersen, A. Christianson, 2013, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta

P. Nürnberg, B. Chung, Shahida Moosa, 2015, Clinical genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

P. Nürnberg, Shahida Moosa, J. Altmüller, 2016, American journal of medical genetics. Part A.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis

P. Goussard, Shahida Moosa, R. Solomons, 2023, BMJ Case Reports.

A Study of the Relative Dominance of Selected Anaerobic Sulfate-Reducing Bacteria in a Continuous Bioreactor by Fluorescence in Situ Hybridization

S. Harrison, Shahida Moosa, B. Icgen, 2006, Microbial Ecology.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome

R. Christensen, P. Nürnberg, Shahida Moosa, 2017, Molecular genetics & genomic medicine.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

P. Nürnberg, T. Cho, Shahida Moosa, 2017, American journal of medical genetics. Part A.

Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy

Shahida Moosa, Kimberly Christine Coetzer, 2021, American journal of medical genetics. Part A.

Genomic basis of syndromic short stature in an Algerian patient cohort

P. Nürnberg, Shahida Moosa, J. Altmüller, 2021, American journal of medical genetics. Part A.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

New Mitochondrial Disease Identified In Monozygotic Twin Boys

V. Jobanputra, R. Happle, B. Gelb, 2023, American journal of medical genetics. Part A.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Undiagnosed disease program in South Africa: Results from first 100 exomes

Shahida Moosa, Kimberly Christine Coetzer, G. Seo, 2022, American journal of medical genetics. Part A.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Human and computer attention in assessing genetic conditions

Dat Van Duong, Tzung-Chien Hsieh, Shahida Moosa, 2023, medRxiv.

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta

Shahida Moosa, V. Fano, M. Rodriguez Celin, 2018, Annals of human genetics.

Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum

G. Mortier, P. Nürnberg, Shahida Moosa, 2017, Clinical genetics.

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.