Yemima Berman

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 771 citations · Full text

Medicine, Dermatology, Ophthalmology +14

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

Daniel G. MacArthur, Jane T. Seto, Joanna M. Raftery et al. · Nature Genetics · 2007 · 351 citations

Life Sciences, Genetics, Molecular Genetics +12

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

Richard D. Bagnall, Jodie Ingles, Marcel E. Dinger et al. · Journal of the American College of Cardiology · 2018 · 192 citations

Medicine, Genetics, Molecular Genetics +15

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

The effect of α-actinin-3 deficiency on muscle aging

Jane T. Seto, Stephen Chan, Nigel Turner et al. · Experimental Gerontology · 2010 · 61 citations

Medicine, Physiology, Aging +11