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Philip Boone, M.D., Ph.D.

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Overview

Mentoring
Available: 11/01/20, Expires: 11/01/23

Cornelia de Lange syndrome is a genetic condition featuring birth defects, diminished growth, intellectual disability, autism, and other features. Several genes for this condition are known, but the molecular steps between gene and phenotype remain obscure, and there is no targeted therapy. The medical student's scholarly project would seek to generate knowledge in these areas and could involve wet lab, computational, or clinical research.


Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. K08NS117891 (BOONE, PHILIP MICHAEL) Aug 15, 2020 - May 31, 2025
    NIH
    Defining the disorders of genome organization
    Role: Principal Investigator

Featured Content

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Maggipinto S, Chen A, Huynh D, Heutlinger O, Eberenz K, Mallick S, Marshall T, Desai R, Wolbrink TA, Boone PM. Free, online videos for distance learning in medical genetics. Eur J Med Genet. 2020 Sep; 63(9):103983. PMID: 32540377.
    Citations:    Fields:    
  2. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. PMID: 32424177.
    Citations:    Fields:    
  3. Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. PMID: 31633297.
    Citations: 3     Fields:    Translation:HumansAnimals
  4. Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 06 01; 199(11):1344-1357. PMID: 30681372.
    Citations: 5     Fields:    Translation:Humans
  5. Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573. PMID: 30622330.
    Citations: 4     Fields:    Translation:HumansAnimals
  6. Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Familial pneumothorax: towards precision medicine. Thorax. 2018 03; 73(3):270-276. PMID: 29288214.
    Citations: 3     Fields:    Translation:Humans
  7. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648. PMID: 27980096.
    Citations: 40     Fields:    Translation:HumansCells
  8. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878.
    Citations: 63     Fields:    Translation:Humans
  9. Boone PM, Chan YM, Hunter JV, Pottkotter LE, Davino NA, Yang Y, Beuten J, Bacino CA. Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. . 2016 11; 170(11):3028-3032. PMID: 27409069.
    Citations: 2     Translation:Humans
  10. Boone PM. Adolescents, Family History, and Inherited Disease Risk: An Opportunity. Pediatrics. 2016 08; 138(2). PMID: 27371759.
    Citations:    Fields:    Translation:Humans
  11. James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13. PMID: 26838676.
    Citations: 13     Fields:    Translation:Humans
  12. Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. PMID: 26788539.
    Citations: 9     Fields:    
  13. de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data. 2014 Dec; 2:144-146. PMID: 26258046.
    Citations: 5     
  14. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. PMID: 25082829.
    Citations: 39     Fields:    Translation:Humans
  15. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 Aug 07; 95(2):143-61. PMID: 25065914.
    Citations: 44     Fields:    Translation:HumansCells
  16. Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394. PMID: 24136616.
    Citations: 14     Fields:    Translation:HumansCells
  17. de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 Oct; 34(10):1439-48. PMID: 23893877.
    Citations: 46     Fields:    Translation:Humans
  18. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. PMID: 23685542.
    Citations: 32     Fields:    Translation:Humans
  19. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. PMID: 22878507.
    Citations: 19     Fields:    Translation:HumansCells
  20. Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. PMID: 22617343.
    Citations: 36     Fields:    Translation:Humans
  21. Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. . 2011 Aug; 155A(8):2024-7. PMID: 21739587.
    Citations: 12     Translation:Humans
  22. Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92. PMID: 21659953.
    Citations: 27     Fields:    Translation:HumansCells
  23. Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21. PMID: 21594611.
    Citations: 7     Fields:    Translation:Humans
  24. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651.
    Citations: 113     Fields:    Translation:HumansCells
  25. Brocvielle H, Muret P, Goydadin AC, Boone P, Broly F, Kantelip JP, Humbert P. N-acetyltransferase 2 acetylation polymorphism: prevalence of slow acetylators does not differ between atopic dermatitis patients and healthy subjects. Skin Pharmacol Appl Skin Physiol. 2003 Nov-Dec; 16(6):386-92. PMID: 14528063.
    Citations: 4     Fields:    Translation:HumansCellsCTClinical Trials
  26. Tswana SA, Nystrom L, Moyo SR, Nzara M, Boone P. The relationship between malaria and HIV. Cent Afr J Med. 1999 Feb; 45(2):43-5. PMID: 10444899.
    Citations: 1     Fields:    Translation:Humans
  27. Marez D, Legrand M, Sabbagh N, Lo-Guidice JM, Boone P, Broly F. An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine. Hum Genet. 1996 May; 97(5):668-70. PMID: 8655150.
    Citations: 3     Fields:    Translation:HumansCells
  28. Broly F, Marez D, Lo Guidice JM, Sabbagh N, Legrand M, Boone P, Meyer UA. A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency. Hum Genet. 1995 Nov; 96(5):601-3. PMID: 8530011.
    Citations: 6     Fields:    Translation:HumansCells
  29. Marez D, Sabbagh N, Legrand M, Lo-Guidice JM, Boone P, Broly F. A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype. Pharmacogenetics. 1995 Oct; 5(5):305-11. PMID: 8563771.
    Citations: 11     Fields:    Translation:HumansCells
  30. Whitington PF, Emond JC, Black DD, Whitington SH, Boone P, Smith C, Thistlethwaite JR, Broelsch CE. Indications for liver transplantation in pediatric patients. Clin Transplant. 1991 Apr; 5(2 part 2):155-60. PMID: 10147638.
    Citations: 2     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.