DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

ανά Booth, Kevin T., Azaiez, Hela, Smith, Richard J. H.
Τόπος έκδοσης Int J Mol Sci (2020)

Advances in Molecular Genetics and the Molecular Biology of Deafness

ανά Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
Τόπος έκδοσης Biomed Res Int (2016)

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

ανά Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
Τόπος έκδοσης J Med Genet (2018)

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

ανά Booth, Kevin T., Azaiez, Hela, Jahan, Israt, Smith, Richard J. H., Fritzsch, Bernd
Τόπος έκδοσης Front Genet (2018)

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

ανά Romdhane, Lilia, Kefi, Rym, Azaiez, Hela, Halim, Nizar Ben, Dellagi, Koussay, Abdelhak, Sonia
Έκδοση 2012

Exonic mutations and exon skipping: lessons learned from DFNA5

ανά Booth, Kevin T, Azaiez, Hela, Kahrizi, Kimia, Wang, Donghong, Zhang, Yuzhou, Frees, Kathy, Nishimura, Carla, Najmabadi, Hossein, Smith, Richard J
Τόπος έκδοσης Hum Mutat (2018)

Adult gaucher disease in southern Tunisia: report of three cases

ανά Ben Rhouma Faten, Kallel Faten, Kefi Rym, Cherif Wafa, Nagara Majdi, Azaiez Hela, Jedidi Ines, Elloumi Moez, Abdelhak Sonia, Mseddi Sondes
Έκδοση 2012-01-01

Adult gaucher disease in southern Tunisia: report of three cases

ανά Ben Rhouma, Faten, Kallel, Faten, Kefi, Rym, Cherif, Wafa, Nagara, Majdi, Azaiez, Hela, Jedidi, Ines, Elloumi, Moez, Abdelhak, Sonia, Mseddi, Sondes
Έκδοση 2012

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

ανά Mori, Kentaro, Moteki, Hideaki, Kobayashi, Yumiko, Azaiez, Hela, Booth, Kevin T, Nishio, Shin-ya, Sato, Hiroaki, Smith, Richard J H, Usami, Shin-ichi
Τόπος έκδοσης Ann Otol Rhinol Laryngol (2015)

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

ανά Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji, Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.
Τόπος έκδοσης Hum Mutat (2014)

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

ανά Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard JH, Usami, Shin-ichi
Τόπος έκδοσης Ann Otol Rhinol Laryngol (2015)

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

ανά 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
Τόπος έκδοσης Ann Otol Rhinol Laryngol (2015)

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

ανά Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Shearer, A Eliot, Sloan, Christina M, Kolbe, Diana L, Nishio, Shin-ya, Hattori, Mitsuru, Usami, Shin-ichi, Smith, Richard J H
Τόπος έκδοσης Clin Genet (2015)

Variants in CIB2 cause DFNB48 and not USH1J

ανά Booth, Kevin T, Kahrizi, Kimia, Babanejad, Mojgan, Daghagh, Hossein, Bademci, Guney, Arzhangi, Sanaz, Zareabdollahi, Davood, Duman, Duygu, El-Amraoui, Aziz, Tekin, Mustafa, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
Τόπος έκδοσης Clin Genet (2018)

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss

ανά 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
Τόπος έκδοσης Hum Genet (2020)

Copy number variants are a common cause of non-syndromic hearing loss

ανά Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Έκδοση 2014

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

ανά 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
Τόπος έκδοσης Ann Otol Rhinol Laryngol (2015)

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

ανά Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, jamali, payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein
Τόπος έκδοσης J Hum Genet (2020)

PDZD7 and hearing loss: more than just a modifier

ανά Booth, Kevin T, Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C, Tollefson, William TA, Sloan, Christina M, Meyer, Nicole C, Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J, Najmabadi, Hossein, Smith, Richard JH
Τόπος έκδοσης Am J Med Genet A (2015)

Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization

ανά 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 JH, Usami, Shin-ichi
Τόπος έκδοσης Ann Otol Rhinol Laryngol (2016)