Shadi Albaba

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha et al. · Nature Communications · 2021 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Meena Balasubramanian, Alexander J.M. Dingemans, Shadi Albaba et al. · European Journal of Human Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Neurology +17

Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere et al. · American Journal of Medical Genetics Part A · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Levels of DNA Methylation Vary at CpG Sites across the BRCA1 Promoter, and Differ According to Triple Negative and “BRCA-Like” Status, in Both Blood and Tumour DNA

Sarah Daniels, George J. Burghel, Philip Chambers et al. · PLoS ONE · 2016 · 17 citations · Full text

Medicine, Genetics, Oncology +17