Michael F. Buckley

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 284 citations · Full text

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa Ewans, Deborah Schofield, Rupendra Shrestha et al. · Genetics in Medicine · 2018 · 191 citations

Functional Genomics, Sequencing, Mendelian Disorder +11

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik‐Jan Kamsteeg, Claudio Catalli, Jens Michael Hertz et al. · European Journal of Human Genetics · 2012 · 160 citations · Full text

Molecular Diagnosis, Genetics, Diagnosis +16

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M. Justice, Garima Yagnik, Yoonhee Kim et al. · Nature Genetics · 2012 · 140 citations · Full text

Sclerostin, Nonsyndromic Sagittal Craniosynostosis, Genetic Disorder +8