Concepedia

Benjamin Kamien

BK

Statistics

Publications

19

Citations

799

H-Index

13

Active since

2007

Affiliations

Hunter Genetics(Current)

Royal Brisbane and Women's Hospital

The University of Melbourne

The University of Sydney

Children's Hospital at Westmead

Benjamin Kamien is an author at Hunter Genetics specializing in genetics, molecular genetics, and medical genetics.

ORCID

Publications per year

2007–2023

19

Publications

19

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

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

, , +17

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 · 119 citations · Full text

, , +17

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

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 111 citations · Full text

, , +9

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 · 83 citations

, , +15

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

, , +17

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