All papers authored by Philip Boone
Refreshing results…
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Joseph T. Glessner ,
Eleonora Porcu,
Maarja Lepamets,
Rhonda Brandon,
Christopher Lauricella,
Lide Han,
Theodore Morley,
Lisa-Marie Niestroj ,
Jacob Ulirsch ,
Selin Everett,
Daniel P. Howrigan ,
Philip M. Boone ,
Jack Fu,
Konrad J. Karczewski
and 36 other authors
A cross-disorder dosage sensitivity map of the human genome
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Philip M. Boone ,
Rolph Pfundt,
Lisenka E. L. M. Vissers,
Nicole de Leeuw,
Christine Shaw,
Han G. Brunner,
James R. Lupski,
Joris A. Veltman,
Jayne Y. Hehir Kwa
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
Download from doi.org
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Bo Yuan,
Ian M. Campbell,
Jennifer C. Scull,
Marjorie A. Withers,
Brett C. Baggett,
Christine R. Beck,
Christine J. Shaw,
Pawel Stankiewicz,
Paolo Moretti,
Wendy E. Goodwin,
Nichole Hein,
John K. Fink,
Moon-Woo Seong,
Soo Hyun Seo
and 8 other authors
Download from www.ncbi.nlm.nih.gov
,
Bo Yuan,
Radha Ayyagari,
Peter L. Nagy
and 6 other authors
Analysis of the ABCA4 genomic locus in Stargardt disease
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,
Kaya Akyüz,
Richard A. Gibbs
and 3 other authors
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
Download from www.nature.com
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Ian M. Campbell,
Brett C. Baggett,
Zachry T. Soens,
Mitchell M. Rao,
Patricia M. Hixson,
Ankita Patel,
Weimin Bi,
Sau Wai Cheung,
Seema R. Lalani,
Arthur L. Beaudet,
Pawel Stankiewicz,
Chad A. Shaw,
James R. Lupski
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
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,
Philip M. Boone ,
Rolph Pfundt,
Lisenka E. L. M. Vissers ,
Todd Richmond,
Joel Geoghegan,
Kathleen O'Moore,
Nicole de Leeuw,
N. de Leeuw,
Christine Shaw,
Han G. Brunner,
James R. Lupski,
Joris A. Veltman,
Jayne Y. Hehir-Kwa
Detection of clinically relevant copy number variants with whole-exome sequencing
Download from www.researchgate.net
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Zachry T. Soens,
Ian M. Campbell,
Pawel Stankiewicz,
Sau Wai Cheung,
Ankita Patel,
Arthur L. Beaudet,
Sharon E. Plon,
Chad A. Shaw,
Amy L. McGuire,
James R. Lupski
Incidental copy-number variants identified by routine genome testing in a clinical population
Download from www.nature.com
,
Srirangan Sampath,
Charles Williams,
Patricia I. Bader,
Jennifer M. Mueller,
Oleg A. Shchelochkov,
Chester W. Brown,
Heather P. Crawford,
James A. Phalen,
Nicole R. Tartaglia ,
Patricia Evans,
William M. Campbell,
Anne Chun-Hui Tsai,
Anne Chun-Hui Tsai
and 10 other authors
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
Download from www.nature.com
,
Russel J. Reiter,
Daniel G. Glaze,
Dun-Xian Tan,
James R. Lupski,
Lorraine Potocki
Abnormal Circadian Rhythm of Melatonin in Smith-Magenis Syndrome Patients with RAI1 Point Mutations
Download from www.ncbi.nlm.nih.gov
,
Wojciech Wiszniewski,
James R. Lupski
Genomic medicine and neurological disease
Download from www.ncbi.nlm.nih.gov
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Carlos A. Bacino,
Chad A. Shaw,
Patricia A. Eng,
Patricia M. Hixson,
Amber N. Pursley,
Sung-Hae L. Kang,
Yaping Yang,
Joanna Wiszniewska,
Beata A. Nowakowska,
Daniela del Gaudio,
Zhilian Xia,
Gayle Simpson-Patel,
LaDonna L. Immken,
James B. Gibson
and 19 other authors
Detection of clinically relevant exonic copy-number changes by array CGH
Download from www.researchgate.net
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