Philip M. Boone

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 341 citations · Full text

Genetics, Pharmacogenomics, Genomics +3

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 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

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 · 237 citations

Array Cgh, Genetics, Diagnosis +18

Analysis of the ABCA4 genomic locus in Stargardt disease

Jana Zernant, Ya‐Jing Xie, Carmen Ayuso et al. · Human Molecular Genetics · 2014 · 131 citations · Full text

Genetics, Pathology, Abca4 Genomic Locus +16

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 · 126 citations · Full text

Hmz Deletion, Mendelian Disease Cohort, Genetics +20