Philip M. Boone

2.7k citations

21 papers · 541 indexed · h-index 15

Co-authors: James R. Lupski Franck Broly Delphine Marez N. Sabbagh Maryline Legrand Jean‐Marc Lo‐Guidice Elizabeth P. Henske Stefan J. Marciniak
Topics: Genomics and Rare Diseases (7 papers)Genomic variations and chromosomal abnormalities (6 papers)Pharmacogenetics and Drug Metabolism (3 papers)
Cited by: Pharmacology Genetics Cancer Research
Journals: Nature Reviews Genetics American Journal of Respiratory and Critical Care Medicine PEDIATRICS
Partner nations: United States France United Kingdom

In The Last Decade

Philip M. Boone

20 papers receiving 528 citations

Peers

Countries citing papers authored by Philip M. Boone

Since Specialization

Citations

This map shows the geographic impact of Philip M. Boone's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Philip M. Boone with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Philip M. Boone more than expected).

Fields of papers citing papers by Philip M. Boone

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Philip M. Boone. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Philip M. Boone. The network helps show where Philip M. Boone may publish in the future.

Co-authorship network of co-authors of Philip M. Boone

This figure shows the co-authorship network connecting the top 25 collaborators of Philip M. Boone. A scholar is included among the top collaborators of Philip M. Boone based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Philip M. Boone. Philip M. Boone is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	X-linked competition — implications for human development and disease 2025 ·Nature Reviews Genetics ·Philip M. Boone,(unknown),(unknown),Matthias Merkenschlager	0
2	Free, online videos for distance learning in medical genetics 2020 ·European Journal of Medical Genetics ·(unknown),Angela Chen,(unknown),(unknown),(unknown),(unknown),(unknown),Rishi Desai,Traci A. Wolbrink,Philip M. Boone	3
3	Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome 2019 ·American Journal of Medical Genetics Part A ·Philip M. Boone,Scott Paterson,Kiana Mohajeri,Wenmiao Zhu,Casie A. Genetti,Derek J.C. Tai,(unknown),Pankaj B. Agrawal,Carlos A. Bacino,Weimin Bi,Michael E. Talkowski,Benjamin M. Hogan,Lance H. Rodan	12
4	The Genetics of Pneumothorax 2019 ·American Journal of Respiratory and Critical Care Medicine ·Philip M. Boone,(unknown),Stefan J. Marciniak,Elizabeth P. Henske,Benjamin A. Raby	41
5	Familial pneumothorax: towards precision medicine 2017 ·Thorax ·(unknown),Elizabeth P. Henske,Benjamin A. Raby,Philip M. Boone,Rosemary A. Rusk,Stefan J. Marciniak	22
6	A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics 2016 ·Genome Medicine ·Regis A. James,Ian M. Campbell,Edward S. Chen,Philip M. Boone,Mitchell Rao,Matthew N. Bainbridge,James R. Lupski,Yaping Yang,Christine M. Eng,Jennifer E. Posey,Chad A. Shaw	25
7	Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation 2016 ·American Journal of Medical Genetics Part A ·Philip M. Boone,Yiu Man Chan,Jill V. Hunter,(unknown),Nelson Davino,Yaping Yang,Joke Beuten,Carlos A. Bacino	15
8	Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death 2015 ·Molecular Genetics & Genomic Medicine ·Philip M. Boone,Bo Yuan,Shen Gu,Zhiwei Ma,Tomasz Gambin,Claudia Gonzaga‐Jauregui,Mahim Jain,(unknown),Janson J. White,Shalini N. Jhangiani,Kimberly Walker,Qiaoyan Wang,Donna M. Muzny,Richard A. Gibbs,J. Fielding Hejtmancik,James R. Lupski,Jennifer E. Posey,Richard A. Lewis	25
9	Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing 2014 ·Genomics Data ·Joep de Ligt,Philip M. Boone,Rolph Pfundt,Lisenka E.L.M. Vissers,Nicole de Leeuw,Christine J. Shaw,Han G. Brunner,James R. Lupski,Joris A. Veltman,Jayne Y. Hehir‐Kwa	13
10	Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D 2013 ·Genetics in Medicine ·Yuji Okamoto,(unknown),Davut Pehli̇van,Christine R. Beck,Claudia Gonzaga‐Jauregui,Donna M. Muzny,Mehmed M. Atik,Claudia M.B. Carvalho,Zeliha Matur,Şerife Bayraktar,Philip M. Boone,(unknown),Richard A. Gibbs,Esra Battaloğlu,Yeşim Parman,James R. Lupski	29
11	Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles 2013 ·Genome Research ·Philip M. Boone,Ian M. Campbell,(unknown),Zachry T. Soens,(unknown),Patricia Hixson,Ankita Patel,Weimin Bi,Sau Wai Cheung,Seema R. Lalani,Arthur L. Beaudet,Paweł Stankiewicz,Chad A. Shaw,James R. Lupski	45
12	Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing 2013 ·Human Mutation ·Joep de Ligt,Philip M. Boone,Rolph Pfundt,Lisenka E.L.M. Vissers,Todd Richmond,Joel Geoghegan,Kathleen O’Moore,Nicole de Leeuw,Christine J. Shaw,Han G. Brunner,James R. Lupski,Joris A. Veltman,Jayne Y. Hehir‐Kwa	79
13	Incidental copy-number variants identified by routine genome testing in a clinical population 2012 ·Genetics in Medicine ·Philip M. Boone,Zachry T. Soens,Ian M. Campbell,Paweł Stankiewicz,Sau Wai Cheung,Ankita Patel,Arthur L. Beaudet,Sharon E. Plon,Chad A. Shaw,Amy L. McGuire,James R. Lupski	30
14	Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia 2011 ·Genetics in Medicine ·Philip M. Boone,Pengfei Liu,Feng Zhang,Cláudia Carvalho,Charles F. Towne,Sat Dev Batish,James R. Lupski	37
15	Genomic medicine and neurological disease 2011 ·Human Genetics ·Philip M. Boone,Wojciech Wiszniewski,James R. Lupski	14
16	N-Acetyltransferase 2 Acetylation Polymorphism: Prevalence of Slow Acetylators Does Not Differ between Atopic Dermatitis Patients and Healthy Subjects 2003 ·Skin Pharmacology and Physiology ·(unknown),Patrice Muret,(unknown),Philip M. Boone,Franck Broly,(unknown),Patrick O. Humbert	15
17	An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine 1996 ·Human Genetics ·Delphine Marez,Maryline Legrand,N. Sabbagh,Jean‐Marc Lo‐Guidice,Philip M. Boone,Franck Broly	20
18	A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency 1995 ·Human Genetics ·Franck Broly,Delphine Marez,Jean‐Marc Lo‐Guidice,N. Sabbagh,Maryline Legrand,Philip M. Boone,Ursina Meyer	21
19	A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype 1995 ·Pharmacogenetics ·Delphine Marez,N. Sabbagh,Maryline Legrand,Jean‐Marc Lo‐Guidice,Philip M. Boone,Franck Broly	33
20	An efficient strategy for detection of known and new mutations of the CYP2D6 gene using single strand conformation polymorphism analysis 1995 ·Pharmacogenetics ·Franck Broly,Delphine Marez,N. Sabbagh,Maryline Legrand,Stéphanie Millecamps,Jean‐Marc Lo‐Guidice,Philip M. Boone,(unknown)	60

About Philip M. Boone

Philip M. Boone is a scholar working on Pharmacology, Genetics and Pharmaceutical Science, having authored 21 papers that have together received 541 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (7 papers), Genomic variations and chromosomal abnormalities (6 papers) and Pharmacogenetics and Drug Metabolism (3 papers). The work is most often cited by research in Pharmacology (110 citations), Genetics (240 citations) and Cancer Research (55 citations). Philip M. Boone has collaborated with scholars based in United States, France and United Kingdom. Frequent co-authors include James R. Lupski, Franck Broly, Delphine Marez, N. Sabbagh, Maryline Legrand, Jean‐Marc Lo‐Guidice, Elizabeth P. Henske, Stefan J. Marciniak, Benjamin A. Raby and Ian M. Campbell. Their work appears in journals such as Nature Reviews Genetics, American Journal of Respiratory and Critical Care Medicine and PEDIATRICS.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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