Abeer Al Sayegh

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

Rebecca Poole, Louise E Docherty, Abeer Al Sayegh et al. · American Journal of Medical Genetics Part A · 2013 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Adila Al‐Kindi, Praseetha Kizhakkedath, Huifang Xu et al. · BMC Medical Genetics · 2014 · 33 citations · Full text

Medicine, Genetics, Molecular Genetics +17

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici et al. · Biological Psychiatry · 2022 · 29 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience

Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi et al. · Journal of Perinatal Medicine · 2017 · 10 citations

Medicine, Maternal Health, Obstetrics +12