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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

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; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.


Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

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.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0285-0. [Epub ahead of print]


Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

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.

Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.


A novel pH-dependent membrane peptide that binds to EphA2 and inhibits cell migration.

Alves DS, Westerfield JM, Shi X, Nguyen VP, Stefanski KM, Booth KR, Kim S, Morrell-Falvey J, Wang BC, Abel SM, Smith AW, Barrera FN.

Elife. 2018 Sep 17;7. pii: e36645. doi: 10.7554/eLife.36645. [Epub ahead of print]


Impact of donor variables on heart transplantation outcomes in mechanically bridged versus standard recipients.

Urban M, Booth K, Jungschleger J, Netuka I, Schueler S, MacGowan G.

Interact Cardiovasc Thorac Surg. 2018 Aug 29. doi: 10.1093/icvts/ivy262. [Epub ahead of print]


Donor and recipient risk factor analysis of inferior postheart transplantation outcome in the era of durable mechanical assist devices.

Urban M, Booth K, Schueler S, Netuka I, MacGowan G.

Clin Transplant. 2018 Aug 25:e13390. doi: 10.1111/ctr.13390. [Epub ahead of print]


A Performing Arts Intervention Improves Cognitive Dysfunction in 50 Hospitalized Older Adults.

Danila MI, Melnick JA, Mudano A, Flood K, Booth K, Kirklin K, Saag KG.

Innov Aging. 2018 Jun;2(2):igy013. doi: 10.1093/geroni/igy013. Epub 2018 Jun 18.


Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.

Booth KT, Azaiez H, Jahan I, Smith RJH, Fritzsch B.

Front Genet. 2018 May 8;9:156. doi: 10.3389/fgene.2018.00156. eCollection 2018. Review.


Improving Geriatric Care Processes on Two Medical-Surgical Acute Care Units: A Pilot Study.

Booth KA, Simmons EE, Viles AF, Gray WA, Kennedy KR, Biswal SH, Lowe JA, Xhaja A, Kennedy RE, Brown CJ, Flood KL.

J Healthc Qual. 2018 May 23. doi: 10.1097/JHQ.0000000000000140. [Epub ahead of print]


A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations.

Vilanova-Sanchez A, Halleran DR, Reck-Burneo CA, Gasior AC, Weaver L, Fisher M, Wagner A, Nash O, Booth K, Peters K, Williams C, Brown SM, Lu P, Fuchs M, Diefenbach K, Leonard JR, Hewitt G, McCracken K, Di Lorenzo C, Wood RJ, Levitt MA.

J Pediatr Surg. 2018 Apr 19. pii: S0022-3468(18)30262-8. doi: 10.1016/j.jpedsurg.2018.04.019. [Epub ahead of print]


Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ.

J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.


Training cardiothoracic surgeons of the future: The UK experience.

Kenny L, Booth K, Freystaetter K, Wood G, Reynolds G, Rathinam S, Moorjani N.

J Thorac Cardiovasc Surg. 2018 Jun;155(6):2526-2538.e2. doi: 10.1016/j.jtcvs.2018.01.088. Epub 2018 Feb 15.


Novel Management of Atrial Septal Defect at Time of Lung Transplantation.

Urban M, Booth K, O'Sullivan J, Dark J.

Ann Thorac Surg. 2018 Jul;106(1):e1-e2. doi: 10.1016/j.athoracsur.2018.02.016. Epub 2018 Mar 9.


Biomarker pattern of ARIA-E participants in phase 3 randomized clinical trials with bapineuzumab.

Liu E, Wang D, Sperling R, Salloway S, Fox NC, Blennow K, Scheltens P, Schmidt ME, Streffer J, Novak G, Einstein S, Booth K, Ketter N, Brashear HR; ELN115727-301/302 Investigator Group.

Neurology. 2018 Mar 6;90(10):e877-e886. doi: 10.1212/WNL.0000000000005060. Epub 2018 Feb 2.


CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

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.

Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.


Exonic mutations and exon skipping: Lessons learned from DFNA5.

Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ.

Hum Mutat. 2018 Mar;39(3):433-440. doi: 10.1002/humu.23384. Epub 2018 Jan 11.


Change to ecosystem properties through changing the dominant species: Impact of Pteridium aquilinum-control and heathland restoration treatments on selected soil properties.

Milligan G, Booth KE, Cox ES, Pakeman RJ, Le Duc MG, Connor L, Blackbird S, Marrs RH.

J Environ Manage. 2018 Feb 1;207:1-9. doi: 10.1016/j.jenvman.2017.11.013. Epub 2017 Nov 14.


Sutureless aortic valve replacement: Progress for the sake of progress?

Booth K, Clark S.

J Thorac Cardiovasc Surg. 2017 Dec;154(6):1902-1903. doi: 10.1016/j.jtcvs.2017.04.036. No abstract available.


Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ.

Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12.


CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

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.

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.


Managing a Mycotic Thoracoabdominal Aneurysm: The Importance of Molecular Diagnostics.

Bayliss CD, Booth KL, Williams R, Dark JH, Gould KF.

Ann Thorac Surg. 2017 Nov;104(5):e379-e381. doi: 10.1016/j.athoracsur.2017.07.005.


Pacemaker Implantation Rate Post Sutureless Aortic Valve Replacement: 23% Is Just Too High.

Booth K, Clark S.

Ann Thorac Surg. 2017 Nov;104(5):1761-1762. doi: 10.1016/j.athoracsur.2016.12.050. No abstract available.


Desire to Be Underweight: Exploratory Study on a Weight Loss App Community and User Perceptions of the Impact on Disordered Eating Behaviors.

Eikey EV, Reddy MC, Booth KM, Kvasny L, Blair JL, Li V, Poole ES.

JMIR Mhealth Uhealth. 2017 Oct 12;5(10):e150. doi: 10.2196/mhealth.6683.


Descending aortic aneurysm in Wiskott-Aldrich syndrome: options for repair.

Wood G, Booth K, Khan Z, Biss T, Roysam C, Dark J.

Asian Cardiovasc Thorac Ann. 2017 Nov;25(9):635-637. doi: 10.1177/0218492317738386. Epub 2017 Oct 12.


It's Your Place: Development and Evaluation of an Evidence-Based Bystander Intervention Campaign.

Sundstrom B, Ferrara M, DeMaria AL, Gabel C, Booth K, Cabot J.

Health Commun. 2018 Sep;33(9):1141-1150. doi: 10.1080/10410236.2017.1333561. Epub 2017 Jun 28.


Long-Term Extensions of Randomized Vaccination Trials of ACC-001 and QS-21 in Mild to Moderate Alzheimer's Disease.

Hull M, Sadowsky C, Arai H, Le Prince Leterme G, Holstein A, Booth K, Peng Y, Yoshiyama T, Suzuki H, Ketter N, Liu E, Ryan JM.

Curr Alzheimer Res. 2017;14(7):696-708. doi: 10.2174/1567205014666170117101537.


Impact of aortic valve closure on adverse events and outcomes with the HeartWare ventricular assist device.

Dobarro D, Urban M, Booth K, Wrightson N, Castrodeza J, Jungschleger J, Robinson-Smith N, Woods A, Parry G, Schueler S, MacGowan GA.

J Heart Lung Transplant. 2017 Jan;36(1):42-49. doi: 10.1016/j.healun.2016.08.006. Epub 2016 Aug 18.


A Phase II, Randomized, Double-Blind, Placebo-Controlled Study of Safety, Pharmacokinetics, and Biomarker Results of Subcutaneous Bapineuzumab in Patients with mild to moderate Alzheimer's disease.

Brody M, Liu E, Di J, Lu M, Margolin RA, Werth JL, Booth K, Shadman A, Brashear HR, Novak G.

J Alzheimers Dis. 2016 Oct 18;54(4):1509-1519.


Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

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.

Arch Iran Med. 2016 Oct 1;19(10):720-728. Review.


Progressive Mobility Protocol Reduces Venous Thromboembolism Rate in Trauma Intensive Care Patients: A Quality Improvement Project.

Booth K, Rivet J, Flici R, Harvey E, Hamill M, Hundley D, Holland K, Hubbard S, Trivedi A, Collier B.

J Trauma Nurs. 2016 Sep-Oct;23(5):284-9. doi: 10.1097/JTN.0000000000000234.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

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.

Ann Otol Rhinol Laryngol. 2016 Nov;125(11):918-923. Epub 2016 Jul 28.


Voices of the "99 Percent": The Role of Online Narrative to Improve Health Care.

Sundstrom B, Meier SJ, Anderson M, Booth KE, Cooper L, Flock E, Payne JB, Hirway P.

Perm J. 2016 Fall;20(4):49-55. doi: 10.7812/TPP/15-224. Epub 2016 Jul 15.


Long-term safety and tolerability of bapineuzumab in patients with Alzheimer's disease in two phase 3 extension studies.

Ivanoiu A, Pariente J, Booth K, Lobello K, Luscan G, Hua L, Lucas P, Styren S, Yang L, Li D, Black RS, Brashear HR, McRae T.

Alzheimers Res Ther. 2016 Jun 23;8(1):24. doi: 10.1186/s13195-016-0193-y.


Post-cardiotomy open chest management. A single-unit experience.

Haughey N, Booth K, Parissis H.

Asian Cardiovasc Thorac Ann. 2016 Jul;24(6):530-4. doi: 10.1177/0218492316655033. Epub 2016 Jun 7.


Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A.

Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1.


Bapineuzumab for mild to moderate Alzheimer's disease in two global, randomized, phase 3 trials.

Vandenberghe R, Rinne JO, Boada M, Katayama S, Scheltens P, Vellas B, Tuchman M, Gass A, Fiebach JB, Hill D, Lobello K, Li D, McRae T, Lucas P, Evans I, Booth K, Luscan G, Wyman BT, Hua L, Yang L, Brashear HR, Black RS; Bapineuzumab 3000 and 3001 Clinical Study Investigators.

Alzheimers Res Ther. 2016 May 12;8(1):18. doi: 10.1186/s13195-016-0189-7.


High Risk Aortic Valve Replacement - The Challenges of Multiple Treatment Strategies with an Evolving Technology.

Booth K, Beattie R, McBride M, Manoharan G, Spence M, Jones JM.

Ulster Med J. 2016 Jan;85(1):18-22.


Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

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 RJ.

Hum Genet. 2016 Apr;135(4):441-50. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.


A novel approach: how an intracoronary shunt proved to be lifesaving.

Booth K, Hooks GJ, Mhandu PC, Parissis H.

J Surg Case Rep. 2015 Dec 29;2015(12). pii: rjv160. doi: 10.1093/jscr/rjv160.


Vanutide Cridificar (ACC-001) and QS-21 Adjuvant in Individuals with Early Alzheimer's Disease: Amyloid Imaging Positron Emission Tomography and Safety Results from a Phase 2 Study.

van Dyck CH, Sadowsky C, Le Prince Leterme G, Booth K, Peng Y, Marek K, Ketter N, Liu E, Wyman BT, Jackson N, Slomkowski M, Ryan JM.

J Prev Alzheimers Dis. 2016;3(2):75-84. doi: 10.14283/jpad.2016.91.


Audioprofile Surfaces: The 21st Century Audiogram.

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.

Ann Otol Rhinol Laryngol. 2016 May;125(5):361-8. doi: 10.1177/0003489415614863. Epub 2015 Nov 3.


It's Not My Place: Formative Evaluation Research to Design a Bystander Intervention Campaign.

DeMaria AL, Sundstrom B, Grzejdziak M, Booth K, Adams H, Gabel C, Cabot J.

J Interpers Violence. 2018 Feb;33(3):468-490. doi: 10.1177/0886260515608804. Epub 2015 Oct 7.


Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

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.

J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7.


PDZD7 and hearing loss: More than just a modifier.

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.

Am J Med Genet A. 2015 Dec;167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29.


Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJH.

Clin Genet. 2016 Apr;89(4):466-472. doi: 10.1111/cge.12677. Epub 2015 Oct 6.


Amyloid-β 11C-PiB-PET imaging results from 2 randomized bapineuzumab phase 3 AD trials.

Liu E, Schmidt ME, Margolin R, Sperling R, Koeppe R, Mason NS, Klunk WE, Mathis CA, Salloway S, Fox NC, Hill DL, Les AS, Collins P, Gregg KM, Di J, Lu Y, Tudor IC, Wyman BT, Booth K, Broome S, Yuen E, Grundman M, Brashear HR; Bapineuzumab 301 and 302 Clinical Trial Investigators.

Neurology. 2015 Aug 25;85(8):692-700. doi: 10.1212/WNL.0000000000001877. Epub 2015 Jul 24.


The challenge of change: not everyone's cup of tea.

Booth K, Hall S.

J Perioper Pract. 2014 Nov;24(11):249-52.


HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

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.

PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.


Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19.


De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sloan CM, Kolbe DL, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:169S-76S. doi: 10.1177/0003489415575042. Epub 2015 Mar 19.

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