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Kevin T Booth, Ph.D.

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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. Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. Hum Genet. 2020 Dec; 139(12):1565-1574. PMID: 32562050.
    Citations:    Fields:    
  2. Booth KT, Azaiez H, Smith RJH. DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? Int J Mol Sci. 2020 May 31; 21(11). PMID: 32486382.
    Citations:    Fields:    
  3. Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet. 2020 Oct; 139(10):1315-1323. PMID: 32382995.
    Citations: 1     Fields:    Translation:Humans
  4. Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. 2020 04; 41(2):151-158. PMID: 32281467.
    Citations:    Fields:    
  5. Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA. Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. Sci Rep. 2020 04 10; 10(1):6213. PMID: 32277154.
    Citations:    Fields:    
  6. Mohseni M, Akbari M, Booth KT, Babanejad M, Azaiez H, Ardalani F, Arzhangi S, Jalalvand K, Nikzat N, Ghodratpour F, Jamali P, Adeli OA, Habibi H, Kahrizi K, Najmabadi H. When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). J Hum Genet. 2020 Jul; 65(7):609-617. PMID: 32231217.
    Citations:    Fields:    
  7. DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21(10):2409. PMID: 31114025.
    Citations:    Fields:    
  8. Tang PC, Alex AL, Nie J, Lee J, Roth AA, Booth KT, Koehler KR, Hashino E, Nelson RF. Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids. Stem Cell Reports. 2019 07 09; 13(1):147-162. PMID: 31204303.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  9. DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247. PMID: 30894701.
    Citations: 8     Fields:    Translation:Humans
  10. Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613. PMID: 30311386.
    Citations: 19     Fields:    Translation:Humans
  11. Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019 04; 21(4):948-954. PMID: 30245514.
    Citations: 6     Fields:    Translation:Humans
  12. Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. Am J Hum Genet. 2018 10 04; 103(4):484-497. PMID: 30245029.
    Citations: 17     Fields:    Translation:Humans
  13. Booth KT, Azaiez H, Jahan I, Smith RJH, Fritzsch B. Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective. Front Genet. 2018; 9:156. PMID: 29868110.
    Citations: 5     
  14. Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ. Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 08; 55(8):555-560. PMID: 29703829.
    Citations: 6     Fields:    Translation:HumansCells
  15. Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 03 01; 27(5):780-798. PMID: 29293958.
    Citations: 4     Fields:    Translation:HumansAnimals
  16. Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ. Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440. PMID: 29266521.
    Citations: 7     Fields:    Translation:HumansCells
  17. Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO Mol Med. 2017 12; 9(12):1711-1731. PMID: 29084757.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  18. Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med. 2016 Oct 01; 19(10):720-728. PMID: 27743438.
    Citations: 6     Fields:    Translation:Humans
  19. Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 2016 Nov; 125(11):918-923. PMID: 27469136.
    Citations: 5     Fields:    Translation:Humans
  20. Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016 Apr; 135(4):441-450. PMID: 26969326.
    Citations: 61     Fields:    Translation:Humans
  21. Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 2016 May; 125(5):361-8. PMID: 26530094.
    Citations: 2     Fields:    Translation:Humans
  22. Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015 Dec; 52(12):823-9. PMID: 26445815.
    Citations: 20     Fields:    Translation:Humans
  23. Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. PDZD7 and hearing loss: More than just a modifier. . 2015 Dec; 167A(12):2957-65. PMID: 26416264.
    Citations: 17     Translation:HumansCells
  24. Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar; 11(3):e1005137. PMID: 25816005.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  25. Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sloan CM, Kolbe DL, Smith RJ, Usami S. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:169S-76S. PMID: 25792666.
    Citations: 8     Fields:    Translation:Humans
  26. Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S. Mutations in LOXHD1 gene cause various types and severities of hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:135S-41S. PMID: 25792669.
    Citations: 5     Fields:    Translation:Humans
  27. Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:177S-83S. PMID: 25788561.
    Citations: 6     Fields:    Translation:HumansCells
  28. Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S. Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:184S-92S. PMID: 25788564.
    Citations: 5     Fields:    Translation:Humans
  29. Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami S. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:123S-8S. PMID: 25743181.
    Citations: 3     Fields:    Translation:Humans
  30. Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014 Oct 02; 95(4):445-53. PMID: 25262649.
    Citations: 54     Fields:    Translation:Humans
  31. Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul; 35(7):819-23. PMID: 24729539.
    Citations: 33     Fields:    Translation:HumansCells
  32. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040.
    Citations: 42     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.