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Select item 30357041.

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S. Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer A. Webster, Dietrich A. Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch

Am J Hum Genet. 2011 Feb 11; 88(2): 127–137. doi: 10.1016/j.ajhg.2010.12.011

PMCID:: PMC3035704

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Select item 29091082.

Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

Muhammad Ansar, Mohammad Ramzan, Thanh L. Pham, Kai Yan, Syed Muhammad Jamal, Sayedul Haque, Wasim Ahmad, Suzanne M. Leal

Hum Hered. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Hered. 2003; 55(1): 71–74. doi: 10.1159/000071813

PMCID:: PMC2909108

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Select item 29091013.

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22–q21.12

Muhammad Wajid, Amir Ali Abbasi, Muhammad Ansar, Thanh L Pham, Kai Yan, Sayedul Haque, Wasim Ahmad, Suzanne M Leal

Eur J Hum Genet. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Eur J Hum Genet. 2003 Oct; 11(10): 812–815. doi: 10.1038/sj.ejhg.5201041

PMCID:: PMC2909101

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Select item 12875194.

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Shin'ichiro Yasunaga, M'hamed Grati, Sébastien Chardenoux, Tenesha N. Smith, Thomas B. Friedman, Anil K. Lalwani, Edward R. Wilcox, Christine Petit

Am J Hum Genet. 2000 Sep; 67(3): 591–600. Published online 2000 Jul 19. doi: 10.1086/303049

PMCID:: PMC1287519

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Select item 50798395.

Phonological Priming in Children with Hearing Loss: Effect of Speech Mode, Fidelity, and Lexical Status

Susan Jerger, Nancy Tye-Murray, Markus F. Damian, Hervé Abdi

Ear Hear. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Ear Hear. 2016 Nov-Dec; 37(6): 623–633. doi: 10.1097/AUD.0000000000000334

PMCID:: PMC5079839

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Select item 106801216.

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Muhammad Noman, Shazia A. Bukhari, Sakina Rehman, Muhammad Qasim, Muhammad Ali, Saima Riazuddin, Zubair M. Ahmed

Mol Biol Rep. Author manuscript; available in PMC 2023 Nov 27.

Published in final edited form as: Mol Biol Rep. 2020 Dec; 47(12): 9987–9993. Published online 2020 Nov 24. doi: 10.1007/s11033-020-06016-y

PMCID:: PMC10680121

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Select item 105623167.

Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment

Manuel Christoph Ketterer, Ralf Birkenhäger, Rainer Beck, Susan Arndt, Antje Aschendorff, Mirjam Kunze

Eur Arch Otorhinolaryngol. 2023; 280(11): 4811–4817. Published online 2023 Apr 24. doi: 10.1007/s00405-023-07986-y

PMCID:: PMC10562316

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Select item 100482578.

Childhood Hearing Impairment in Senegal

Yacouba Dia, Birame Loum, Yaay Joor Koddu Biigé Dieng, Jean Pascal Demba Diop, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Abdoul Aziz Touré, Fallou Niang, Pierre Diaga Sarr, Cheikh Ahmed Tidiane Ly, Andrea Regina Gnilane Sène, Carmen De Kock, Rhiyana Bassier, Kalinka Popel, Rokhaya Ndiaye Diallo, Ambroise Wonkam, Bay Karim Diallo

Genes (Basel) 2023 Mar; 14(3): 562. Published online 2023 Feb 23. doi: 10.3390/genes14030562

PMCID:: PMC10048257

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Select item 99627309.

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature

Francesca Forli, Silvia Capobianco, Stefano Berrettini, Luca Bruschini, Silvia Romano, Antonella Fogli, Veronica Bertini, Francesco Lazzerini

Medicina (Kaunas) 2023 Feb; 59(2): 352. Published online 2023 Feb 13. doi: 10.3390/medicina59020352

PMCID:: PMC9962730

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Select item 988158110.

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Johanna Elander, Elizabeth M. McCormick, Maria Värendh, Karin Stenfeldt, Rebecca D. Ganetzky, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Laura E. MacMullen, Rui Xiao, Marni J. Falk, Johannes K. Ehinger

Mol Genet Metab. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Mol Genet Metab. 2022 Nov; 137(3): 230–238. Published online 2022 Sep 19. doi: 10.1016/j.ymgme.2022.09.002

PMCID:: PMC9881581

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Select item 954055711.

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

Lilián Galbis‐Martínez, Fiona Blanco‐Kelly, Gema García‐García, Almudena Ávila‐Fernández, Teresa Jaijo, Carla Fuster‐García, Irene Perea‐Romero, Olga Zurita‐Muñoz, Belén Jimenez‐Rolando, Ester Carreño, Blanca García‐Sandoval, José M. Millán, Carmen Ayuso

Acta Ophthalmol. 2021 Dec; 99(8): 922–930. Published online 2021 Feb 11. doi: 10.1111/aos.14795

PMCID:: PMC9540557

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Select item 944573912.

Diagnosis routine and approach in genetic sensorineural hearing loss

Fatima Regina Abreu Alves, Fernando de Andrade Quintanilha Ribeiro

Braz J Otorhinolaryngol. 2007 May-Jun; 73(3): 412–417. Published online 2015 Oct 19. doi: 10.1016/S1808-8694(15)30087-2

PMCID:: PMC9445739

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Select item 924570613.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin

Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2204084119. Published online 2022 Jun 21. doi: 10.1073/pnas.2204084119

PMCID:: PMC9245706

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Select item 920497914.

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss

Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo, Huawei Li

BMC Med Genomics. 2022; 15: 135. Published online 2022 Jun 17. doi: 10.1186/s12920-022-01289-7

PMCID:: PMC9204979

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Select item 903499315.

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Akiko Sugaya, Yuko Kataoka, Yukihide Maeda, Yukihiko Kanda, Kyoko Nagai, Yasushi Naito, Hiroshi Yamazaki, Tetsuo Ikezono, Han Matsuda, Masako Nakai, Risa Tona, Yuika Sakurai, Remi Motegi, Hidehiko Takeda, Marina Kobayashi, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Sakiko Furutate, Shin-ichiro Oka, Toshinori Kubota, Yasuhiro Arai, Yumiko Kobayashi, Daisuke Kikuchi, Tomoko Shintani, Noriko Ogasawara, Yohei Honkura, Shuji Izumi, Misako Hyogo, Yuzuru Ninoyu, Mayumi Suematsu, Jun Nakayama, Nana Tsuchihashi, Mayuri Okami, Hideaki Sakata, Hiroshi Yoshihashi, Taisuke Kobayashi, Kozo Kumakawa, Tadao Yoshida, Tomoko Esaki, Shin-ichi Usami

Hum Genet. 2022; 141(3-4): 865–875. Published online 2021 Sep 18. doi: 10.1007/s00439-021-02351-7

Correction in:: Hum Genet. 2022; 141(3-4): 993–995.

PMCID:: PMC9034993

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Select item 894901616.

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients

Moza Alkowari, Meritxell Espino-Guarch, Sahar Daas, Doua Abdelrahman, Waseem Hasan, Navaneethakrishnan Krishnamoorthy, Abbirami Sathappan, Patrick Sheehan, Nicholas Van Panhuys, The Qatar Genome Program Research Consortium, Xavier Estivill

Int J Mol Sci. 2022 Mar; 23(6): 3369. Published online 2022 Mar 21. doi: 10.3390/ijms23063369

PMCID:: PMC8949016

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Select item 873875417.

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Christel Vaché, David Baux, Julie Bianchi, Corinne Baudoin, Valérie Faugère, Christine Francannet, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

Eur J Hum Genet. 2022 Jan; 30(1): 34–41. Published online 2021 Dec 3. doi: 10.1038/s41431-021-01010-9

PMCID:: PMC8738754

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Select item 873875018.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J. Morell, Suzanne M. Leal, Thomas B. Friedman, Andrew J. Griffith, Isabelle Roux

Eur J Hum Genet. 2022 Jan; 30(1): 42–52. Published online 2021 Nov 26. doi: 10.1038/s41431-021-00984-w

PMCID:: PMC8738750

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Select item 873874019.

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese, Liz M. Nouel-Saied, Abdul Nasir, Jenna L. Everard, Lana M. Pollock, Shaoyuan Zhu, Michael J. Bamshad, Deborah A. Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P. Santos-Cortez, Zubair M. Ahmed, Brian M. McDermott, Jr., Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Suzanne M. Leal

Eur J Hum Genet. 2022 Jan; 30(1): 22–33. Published online 2021 Jun 16. doi: 10.1038/s41431-021-00913-x

PMCID:: PMC8738740

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Select item 821690820.

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Khurram Liaqat, Shabir Hussain, Muhammad Bilal, Abdul Nasir, Anushree Acharya, Raja Hussain Ali, Shoaib Nawaz, Muhammad Umair, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. 2020; 65(2): 187–192. Published online 2019 Oct 28. doi: 10.1038/s10038-019-0691-4

Correction in:: J Hum Genet. 2022; 67(3): 181.

PMCID:: PMC8216908

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