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Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38038-y
By:
- Ivanchenko, Maryna V.;
- Hathaway, Daniel M.;
- Klein, Alex J.;
- Pan, Bifeng;
- Strelkova, Olga;
- De-la-Torre, Pedro;
- Wu, Xudong;
- Peters, Cole W.;
- Mulhall, Eric M.;
- Booth, Kevin T.;
- Goldstein, Corey;
- Brower, Joseph;
- Sotomayor, Marcos;
- Indzhykulian, Artur A.;
- Corey, David P.
Publication type:
Article
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Published in:
EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1711, doi. 10.15252/emmm.201708087
By:
- Michel, Vincent;
- Booth, Kevin T;
- Patni, Pranav;
- Cortese, Matteo;
- Azaiez, Hela;
- Bahloul, Amel;
- Kahrizi, Kimia;
- Labbé, Ménélik;
- Emptoz, Alice;
- Lelli, Andrea;
- Dégardin, Julie;
- Dupont, Typhaine;
- Aghaie, Asadollah;
- Oficjalska‐Pham, Danuta;
- Picaud, Serge;
- Najmabadi, Hossein;
- Smith, Richard J;
- Bowl, Michael R;
- Brown, Steven DM;
- Avan, Paul
Publication type:
Article
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8897, doi. 10.3390/ijms24108897
By:
- Hirsch, Yoel;
- Chung, Wendy K.;
- Novoselov, Sergey;
- Weimer, Louis H.;
- Rossor, Alexander;
- LeDuc, Charles A.;
- McPartland, Amanda J.;
- Cabrera, Ernesto;
- Ekstein, Josef;
- Scher, Sholem;
- Nelson, Rick F.;
- Schiavo, Giampietro;
- Henderson, Lindsay B.;
- Booth, Kevin T. A.
Publication type:
Article
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3951, doi. 10.3390/ijms21113951
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Smith, Richard J. H.
Publication type:
Article
Editorial to the Special Issue on "The molecular genetics of hearing and deafness".
Published in:
2022
By:
- Booth, Kevin T.;
- Shearer, A. Eliot
Publication type:
Editorial
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 401, doi. 10.1007/s00439-022-02440-1
By:
- Bu, Fengxiao;
- Zhong, Mingjun;
- Chen, Qinyi;
- Wang, Yumei;
- Zhao, Xia;
- Zhang, Qian;
- Li, Xiarong;
- Booth, Kevin T.;
- Azaiez, Hela;
- Lu, Yu;
- Cheng, Jing;
- Smith, Richard J. H.;
- Yuan, Huijun
Publication type:
Article
Genetic etiology of hearing loss in Iran.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 623, doi. 10.1007/s00439-021-02421-w
By:
- Babanejad, Mojgan;
- Beheshtian, Maryam;
- Jamshidi, Fereshteh;
- Mohseni, Marzieh;
- Booth, Kevin T.;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
By:
- Vona, Barbara;
- Mazaheri, Neda;
- Lin, Sheng-Jia;
- Dunbar, Lucy A.;
- Maroofian, Reza;
- Azaiez, Hela;
- Booth, Kevin T.;
- Vitry, Sandrine;
- Rad, Aboulfazl;
- Rüschendorf, Franz;
- Varshney, Pratishtha;
- Fowler, Ben;
- Beetz, Christian;
- Alagramam, Kumar N.;
- Murphy, David;
- Shariati, Gholamreza;
- Sedaghat, Alireza;
- Houlden, Henry;
- Petree, Cassidy;
- VijayKumar, Shruthi
Publication type:
Article
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Published in:
Human Genetics, 2020, v. 139, n. 12, p. 1565, doi. 10.1007/s00439-020-02197-5
By:
- Booth, Kevin T.;
- Ghaffar, Amama;
- Rashid, Muhammad;
- Hovey, Luke T.;
- Hussain, Mureed;
- Frees, Kathy;
- Renkes, Erika M.;
- Nishimura, Carla J.;
- Shahzad, Mohsin;
- Smith, Richard J.;
- Ahmed, Zubair;
- Azaiez, Hela;
- Riazuddin, Saima
Publication type:
Article
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1315, doi. 10.1007/s00439-020-02174-y
By:
- Walls, W. Daniel;
- Moteki, Hideaki;
- Thomas, Taylor R.;
- Nishio, Shin-ya;
- Yoshimura, Hidekane;
- Iwasa, Yoichiro;
- Frees, Kathy L.;
- Nishimura, Carla J.;
- Azaiez, Hela;
- Booth, Kevin T.;
- Marini, Robert J.;
- Kolbe, Diana L.;
- Weaver, A. Monique;
- Schaefer, Amanda M.;
- Wang, Kai;
- Braun, Terry A.;
- Usami, Shin-ichi;
- Barr-Gillespie, Peter G.;
- Richardson, Guy P.;
- Smith, Richard J.
Publication type:
Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3110, doi. 10.1002/ajmg.a.62943
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Chung, Wendy K.;
- Ekstein, Josef;
- Levy‐Lahad, Ephrat;
- Zuckerman, Shachar;
- Mor‐Shaked, Hagar;
- Meiner, Vardiella;
- Booth, Kevin T.;
- Pappas, John
Publication type:
Article
PDZD7 and Hearing Loss: More Than Just a Modifier.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2957, doi. 10.1002/ajmg.a.37274
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Kahrizi, Kimia;
- Simpson, Allen C.;
- Tollefson, William T.A.;
- Sloan, Christina M.;
- Meyer, Nicole C.;
- Babanejad, Mojgan;
- Ardalani, Fariba;
- Arzhangi, Sanaz;
- Schnieders, Michael J.;
- Najmabadi, Hossein;
- Smith, Richard J.H.
Publication type:
Article
POOLED AMYLOID PET BASELINE DATA FROM THE BAPINEUZUMAB IV PHASE III TRIALS.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P614, doi. 10.1016/j.jalz.2016.06.1219
By:
- Hill, Derek L.;
- Novak, Gerald P.;
- Wolz, Robin;
- Liu, Enchi;
- Lucas, Prisca;
- Fox, Nick C.;
- Scheltens, Philip;
- Gray, Katherine R.;
- Booth, Kevin;
- Einstein, Steven G.;
- Schmidt, Mark E.;
- Li, David Jianjun;
- Styren, Scot D.;
- Margolin, Richard A.;
- McCarthy, Timothy J.;
- Brashear, Robert Robert
Publication type:
Article
Safety, tolerability and efficacy of lecozotan SR in patients with mild-to-moderate Alzheimer's disease used as monotherapy or adjunctively with a cholinesterase inhibitor
Published in:
2012
By:
- Booth, Kevin;
- Zhao, Yonggang;
- Hua, Yue;
- Wilks, Kerri;
- Solomon, Paul;
- Lucas, Prisca;
- Murray, Ermellina;
- Raje, Sangeeta;
- Black, Ronald S.
Publication type:
Abstract
Depression in patients screened for Alzheimer's disease clinical trials
Published in:
2012
By:
- Hua, Yue Lisa;
- Li, David;
- Cook, Michael;
- Lobello, Kasia;
- Shen, Joan;
- Booth, Kevin;
- Rodriguez, Luisa;
- Werth, John;
- Black, Ronald S.
Publication type:
Abstract
Prevalence of cerebral microhemorrhages at screening in an Alzheimer's disease clinical trial population
Published in:
2011
By:
- Lobello, Kasia;
- Li, David;
- Booth, Kevin;
- Hua, Lisa;
- Cook, Michael;
- Gass, Achim;
- Black, Ronald
Publication type:
Abstract
Safety, tolerability, and preliminary efficacy of SAM-531, a 5HT-6 antagonist, in subjects with mild-to-moderate Alzheimer's disease: Results from a phase 2a study
Published in:
2010
By:
- Brisard, Claudine;
- Safirstein, Beth;
- Booth, Kevin;
- Hua, Lisa;
- Brault, Yves;
- Raje, Sangeeta;
- Leventer, Steven
Publication type:
Abstract
A comparison of Neuropsychological Test Battery (NTB) and ADAS-cog performance in an Alzheimer's disease clinical trial
Published in:
2009
By:
- Black, Ronald S.;
- Harrison, John;
- Li, David;
- Yang, Lingfeng;
- Booth, Kevin;
- Barlas, Suna
Publication type:
Abstract
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Published in:
Human Genetics, 2016, v. 135, n. 4, p. 441, doi. 10.1007/s00439-016-1648-8
By:
- Sloan-Heggen, Christina;
- Bierer, Amanda;
- Shearer, A.;
- Kolbe, Diana;
- Nishimura, Carla;
- Frees, Kathy;
- Ephraim, Sean;
- Shibata, Seiji;
- Booth, Kevin;
- Campbell, Colleen;
- Ranum, Paul;
- Weaver, Amy;
- Black-Ziegelbein, E.;
- Wang, Donghong;
- Azaiez, Hela;
- Smith, Richard
Publication type:
Article
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63256-5
By:
- Morín, Matias;
- Borreguero, Lucía;
- Booth, Kevin T;
- Lachgar, María;
- Huygen, Patrick;
- Villamar, Manuela;
- Mayo, Fernando;
- Barrio, Luis Carlos;
- Santos Serrão de Castro, Luciana;
- Morales, Carmelo;
- del Castillo, Ignacio;
- Arellano, Beatriz;
- Tellería, Dolores;
- Smith, Richard J. H.;
- Azaiez, Hela;
- Moreno Pelayo, M. A.
Publication type:
Article
Long-term safety and tolerability of bapineuzumab in patients with Alzheimer's disease in two phase 3 extension studies.
Published in:
Alzheimer's Research & Therapy, 2016, v. 8, p. 1, doi. 10.1186/s13195-016-0193-y
By:
- Ivanoiu, Adrian;
- Pariente, Jérémie;
- Booth, Kevin;
- Lobello, Kasia;
- Luscan, Gerald;
- Hua, Lisa;
- Lucas, Prisca;
- Styren, Scot;
- Lingfeng Yang;
- Li, David;
- Black, Ronald S.;
- Robert Brashear, H.;
- McRae, Thomas
Publication type:
Article
Bapineuzumab for mild to moderate Alzheimer's disease in two global, randomized, phase 3 trials.
Published in:
Alzheimer's Research & Therapy, 2016, v. 8, p. 1, doi. 10.1186/s13195-016-0189-7
By:
- Vandenberghe, Rik;
- Rinne, Juha O.;
- Boada, Mercè;
- Sadao Katayama;
- Scheltens, Philip;
- Vellas, Bruno;
- Tuchman, Michael;
- Gass, Achim;
- Fiebach, Jochen B.;
- Hill, Derek;
- Lobello, Kasia;
- Li, David;
- McRae, Tom;
- Lucas, Prisca;
- Evans, Iona;
- Booth, Kevin;
- Luscan, Gerald;
- Wyman, Bradley T.;
- Hua, Lisa;
- Lingfeng Yang
Publication type:
Article
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran.
Published in:
Clinical Genetics, 2021, v. 100, n. 1, p. 59, doi. 10.1111/cge.13956
By:
- Mohseni, Marzieh;
- Babanejad, Mojgan;
- Booth, Kevin T.;
- Jamali, Payman;
- Jalalvand, Khadijeh;
- Davarnia, Behzad;
- Ardalani, Fariba;
- Khoshaeen, Atefeh;
- Arzhangi, Sanaz;
- Ghodratpour, Fatemeh;
- Beheshtian, Maryam;
- Jahanshad, Faezeh;
- Otukesh, Hasan;
- Bahrami, Fatemeh;
- Seifati, Seyed Morteza;
- Bazazzadegan, Niloofar;
- Habibi, Farkhonde;
- Behravan, Hanieh;
- Mirzaei, Sepide;
- Keshavarzi, Fatemeh
Publication type:
Article
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Published in:
Archives of Iranian Medicine (AIM), 2016, v. 19, n. 10, p. 724
By:
- Beheshtian, Maryam;
- Babanejad, Mojgan;
- Azaiez, Hela;
- Bazazzadegan, Niloofar;
- Kolbe, Diana;
- Sloan-Heggen, Christina;
- Arzhangi, Sanaz;
- Booth, Kevin;
- Mohseni, Marzieh;
- Frees, Kathy;
- Azizi, Mohammad Hossein;
- Daneshi, Ahmad;
- Farhadi, Mohammad;
- Kahrizi, Kimia;
- Smith, Richard J. H.;
- Najmabadi, Hossein
Publication type:
Article
Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.
Published in:
Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00156
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Jahan, Israt;
- Smith, Richard J. H.;
- Fritzsch, Bernd
Publication type:
Article
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 5, p. 780, doi. 10.1093/hmg/ddx440
By:
- Imtiaz, Ayesha;
- Belyantseva, Inna A.;
- Beirl, Alisha J.;
- Fenollar-Ferrer, Cristina;
- Bashir, Rasheeda;
- Bukhari, Ihtisham;
- Bouzid, Amal;
- Shaukat, Uzma;
- Azaiez, Hela;
- Booth, Kevin T.;
- Kahrizi, Kimia;
- Najmabadi, Hossein;
- Maqsood, Azra;
- Wilson, Elizabeth A.;
- Fitzgerald, Tracy S.;
- Tlili, Abdelaziz;
- Olszewski, Rafal;
- Lund, Merete;
- Chaudhry, Taimur;
- Rehman, Atteeq U.
Publication type:
Article
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Published in:
Annals of Otology, Rhinology & Laryngology, 2016, v. 125, n. 11, p. 918, doi. 10.1177/0003489416661345
By:
- Moteki, Hideaki;
- Azaiez, Hela;
- Sloan-Heggen, Christina M.;
- Booth, Kevin;
- Nishio, Shin-ya;
- Wakui, Keiko;
- Yamaguchi, Tomomi;
- Kolbe, Diana L.;
- Iwasa, Yoh-ichiro;
- Shearer, A. Eliot;
- Fukushima, Yoshimitsu;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Article
Audioprofile Surfaces.
Published in:
Annals of Otology, Rhinology & Laryngology, 2016, v. 125, n. 5, p. 361, doi. 10.1177/0003489415614863
By:
- Taylor, Kyle R.;
- Booth, Kevin T.;
- Azaiez, Hela;
- Sloan, Christina M.;
- Kolbe, Diana L.;
- Glanz, Emily N.;
- Shearer, A. Eliot;
- DeLuca, Adam P.;
- Anand, V. Nikhil;
- Hildebrand, Michael S.;
- Simpson, Allen C.;
- Eppsteiner, Robert W.;
- Scheetz, Todd E.;
- Braun, Terry A.;
- Huygen, Patrick L. M.;
- Smith, Richard J. H.;
- Casavant, Thomas L.
Publication type:
Article
Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation.
Published in:
2015
By:
- Moteki, Hideaki;
- Azaiez, Hela;
- Booth, Kevin T.;
- Hattori, Mitsuru;
- Sato, Ai;
- Sato, Yoshihiko;
- Motobayashi, Mitsuo;
- Sloan, Christina M.;
- Kolbe, Diana L.;
- Shearer, A. Eliot;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Case Study
De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss.
Published in:
2015
By:
- Moteki, Hideaki;
- Shearer, A. Eliot;
- Izumi, Shuji;
- Kubota, Yamato;
- Azaiez, Hela;
- Booth, Kevin T.;
- Sloan, Christina M.;
- Kolbe, Diana L.;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Journal Article
De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss.
Published in:
2015
By:
- Moteki, Hideaki;
- Shearer, A. Eliot;
- Izumi, Shuji;
- Kubota, Yamato;
- Azaiez, Hela;
- Booth, Kevin T.;
- Sloan, Christina M.;
- Kolbe, Diana L.;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Case Study
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss.
Published in:
2015
By:
- Sakuma, Naoko;
- Moteki, Hideaki;
- Azaiez, Hela;
- Booth, Kevin T.;
- Takahashi, Masahiro;
- Arai, Yasuhiro;
- Shearer, A. Eliot;
- Sloan, Christina M.;
- Nishio, Shin-ya;
- Kolbe, Diana L.;
- Iwasaki, Satoshi;
- Oridate, Nobuhiko;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Case Study
USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms.
Published in:
2015
By:
- Moteki, Hideaki;
- Yoshimura, Hidekane;
- Azaiez, Hela;
- Booth, Kevin T.;
- Shearer, A. Eliot;
- Sloan, Christina M.;
- Kolbe, Diana L.;
- Murata, Toshinori;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Case Study
Mutations in LOXHD1 Gene Cause Various Types and Severities of Hearing Loss.
Published in:
Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 135S, doi. 10.1177/0003489415574067
By:
- Mori, Kentaro;
- Moteki, Hideaki;
- Kobayashi, Yumiko;
- Azaiez, Hela;
- Booth, Kevin T.;
- Nishio, Shin-ya;
- Sato, Hiroaki;
- Smith, Richard J. H.;
- Usami, Shin-ichi
Publication type:
Article
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.737782
By:
- Booth, Kevin T.;
- Hirsch, Yoel;
- Vardaro, Anna C.;
- Ekstein, Josef;
- Yefet, Devorah;
- Quint, Adina;
- Weiden, Tzvi;
- Corey, David P.
Publication type:
Article
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice.
Published in:
PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005137
By:
- Azaiez, Hela;
- Decker, Amanda R.;
- Booth, Kevin T.;
- Simpson, Allen C.;
- Shearer, A. Eliot;
- Huygen, Patrick L. M.;
- Bu, Fengxiao;
- Hildebrand, Michael S.;
- Ranum, Paul T.;
- Shibata, Seiji B.;
- Turner, Ann;
- Zhang, Yuzhou;
- Kimberling, William J.;
- Cornell, Robert A.;
- Smith, Richard J. H.
Publication type:
Article
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1593, doi. 10.1002/humu.23630
By:
- Oza, Andrea M.;
- DiStefano, Marina T.;
- Hemphill, Sarah E.;
- Cushman, Brandon J.;
- Grant, Andrew R.;
- Siegert, Rebecca K.;
- Shen, Jun;
- Chapin, Alex;
- Boczek, Nicole J.;
- Schimmenti, Lisa A.;
- Murry, Jaclyn B.;
- Hasadsri, Linda;
- Nara, Kiyomitsu;
- Kenna, Margaret;
- Booth, Kevin T.;
- Azaiez, Hela;
- Griffith, Andrew;
- Avraham, Karen B.;
- Kremer, Hannie;
- Rehm, Heidi L.
Publication type:
Article
Exonic mutations and exon skipping: Lessons learned from <italic>DFNA5</italic>.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 433, doi. 10.1002/humu.23384
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Kahrizi, Kimia;
- Wang, Donghong;
- Zhang, Yuzhou;
- Frees, Kathy;
- Nishimura, Carla;
- Najmabadi, Hossein;
- Smith, Richard J.
Publication type:
Article
TBC1 D24 Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss.
Published in:
Human Mutation, 2014, v. 35, n. 7, p. 819, doi. 10.1002/humu.22557
By:
- Azaiez, Hela;
- Booth, Kevin T.;
- Bu, Fengxiao;
- Huygen, Patrick;
- Shibata, Seiji B.;
- Shearer, A. Eliot;
- Kolbe, Diana;
- Meyer, Nicole;
- Black‐Ziegelbein, E. Ann;
- Smith, Richard J.H.
Publication type:
Article

Found: 39