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Moosa, Shahida
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1

Utility of next generation sequencing in paediatric neurolo..:

van Niekerk, Magriet ; Moosa, Shahida ; van Toorn, Ronald.
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Next‐generation phenotyping in Nigerian children with Corne..:

Arlt, Annabelle ; Knaus, Alexej ; Hsieh, Tzung‐Chien...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Comparison of clinical geneticist and computer visual atten..:

Duong, Dat ; Johny, Anna Rose ; Ledgister Hanchard, Suzanna...
PLOS Genetics.  20 (2024)  2 - p. e1011168 , 2024
Link: https://doi.org/10.1371/..
 
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4

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open.  1 (2023)  1 - p. 100225 , 2023
Link: https://doi.org/10.1016/..
 
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5

Genetic basis of osteogenesis imperfecta from a single tert..:

Coetzer, Kimberly Christine ; Zöllner, Ekkehard ; Moosa, Shahida
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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6

Clinical, genetic and structural delineation of RPL13-relat..:

Jacob, Prince ; Lindelöf, Hillevi ; Rustad, Cecilie F....
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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7

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1068-1085 , 2023
Link: https://doi.org/10.1016/..
 
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8

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey..:

Yap, Jia Ying Celeste ; Lim, Jiin Ying ; Bhatia, Anju...
American Journal of Medical Genetics Part A.  194 (2023)  2 - p. 358-362 , 2023
Link: https://doi.org/10.1002/..
 
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9

B3GALT6-linkeropathy: Three illustrative patients spanning ..:

Coetzer, Kimberly Christine ; Dieckerhoff, Jost ; Wollnik, Bernd.
European Journal of Medical Genetics.  66 (2023)  10 - p. 104829 , 2023
Link: https://doi.org/10.1016/..
 
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10

O17: GestaltMatcher supports classification of ultra-rare d..:

Klinkhammer, Hannah ; Lesmann, Hellen ; Moosa, Shahida...
Genetics in Medicine Open.  1 (2023)  1 - p. 100113 , 2023
Link: https://doi.org/10.1016/..
 
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11

GestaltMatcher facilitates rare disease matching using faci..:

Hsieh, Tzung-Chien ; Bar-Haim, Aviram ; Moosa, Shahida...
Nature Genetics.  54 (2022)  3 - p. 349-357 , 2022
Link: https://doi.org/10.1038/..
 
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12

Undiagnosed disease program in South Africa: Results from f..:

Moosa, Shahida ; Coetzer, Kimberly Christine ; Lee, Eugene.
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2684-2692 , 2022
Link: https://doi.org/10.1002/..
 
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13

Perspectives on the future of dysmorphology:

Solomon, Benjamin D. ; Adam, Margaret P. ; Fong, Chin‐To...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 659-671 , 2022
Link: https://doi.org/10.1002/..
 
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14

Utility of genetic testing in children with developmental a..:

Essajee, Farida ; Urban, Michael ; Smit, Liani...
Seizure: European Journal of Epilepsy.  101 (2022)  - p. 197-204 , 2022
Link: https://doi.org/10.1016/..
 
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15

A rare case of tuberous sclerosis complex-associated renal ..:

Mapuranga, Humphrey ; Douglas-Jones, Bianca ; du Plessis, Danelo...
South African Journal of Radiology.  26 (2022)  1 - p. , 2022
Link: https://doi.org/10.4102/..
 
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