Shatha Alrasheed

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott et al. · The American Journal of Human Genetics · 2010 · 359 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Ranad Shaheen, Eissa Faqeih, Muneera Alshammari et al. · European Journal of Human Genetics · 2012 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype–phenotype correlation in <i>CC2D2A</i>-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Ruxandra Bachmann‐Gagescu, Gisele E. Ishak, Jennifer C. Dempsey et al. · Journal of Medical Genetics · 2012 · 70 citations

Life Sciences, Genetics, Molecular Genetics +15

Axial spondylometaphyseal dysplasia: Additional reports

Shigeru Suzuki, Ok‐Hwa Kim, Yoshio Makita et al. · American Journal of Medical Genetics Part A · 2011 · 10 citations

Medicine, Genetics, Pediatrics +16