Maha Faden
King Saud Medical City(SA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation(2011)83 cited
- → The Erlenmeyer flask bone deformity in the skeletal dysplasias(2009)73 cited
- → KDM5A mutations identified in autism spectrum disorder using forward genetics(2020)59 cited
- → Mutation of CANT1 causes Desbuquois dysplasia(2010)42 cited
- → Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice(2023)27 cited
- → Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations(2015)18 cited