Philip M. Boone

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 240 citations

Life Sciences, Genetics, Molecular Genetics +16

Analysis of the ABCA4 genomic locus in Stargardt disease

Jana Zernant, Ya‐Jing Xie, Carmen Ayuso et al. · Human Molecular Genetics · 2014 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan et al. · Nucleic Acids Research · 2016 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17