Benjamin Kamien

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 122 citations · Full text

Genetic Epidemiology, Diagnosis, Pathology +23

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Lisa Ewans, André E. Minoche, Deborah Schofield et al. · European Journal of Human Genetics · 2022 · 110 citations · Full text

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 105 citations · Full text

Pathogenic Kat6a Variants, Kat6a Syndrome, Genetics +6

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

Ching Moey, Susan J. Hinze, Louise Brueton et al. · European Journal of Human Genetics · 2015 · 82 citations · Full text

Neurodevelopmental Disorders, Kdm5c Genes, Brain Development +12

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma, Saira Yousoof, John Grigg et al. · Genetics in Medicine · 2020 · 54 citations · Full text