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1.

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Redfield, Shelby E; De-la-Torre, Pedro; Zamani, Mina; Wang, Hanjun; Khan, Hina; Morris, Tyler; Shariati, Gholamreza; Karimi, Majid; Kenna, Margaret A; Seo, Go Hun; Xu, Hongen; Lu, Wei; Naz, Sadaf; Galehdari, Hamid; Indzhykulian, Artur A; Shearer, A Eliot; Vona, Barbara.

Hum Genet ; 143(3): 311-329, 2024 Mar.

Article in English | MEDLINE | ID: mdl-38459354

2.

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.

Chen, Robert; Diaz-Miranda, Maria Alejandra; Aref-Eshghi, Erfan; Hartman, Tiffiney R; Griffith, Christopher; Morrison, Jennifer L; Wheeler, Patricia G; Torti, Erin; Richard, Gabriele; Kenna, Margaret; Dechene, Elizabeth T; Spinner, Nancy B; Bai, Renkui; Conlin, Laura K; Krantz, Ian D; Amr, Sami S; Luo, Minjie.

Hum Mutat ; 43(12): 1837-1843, 2022 12.

Article in English | MEDLINE | ID: mdl-35870179

3.

Genetic testing for pediatric hearing loss: no time to waste.

Kenna, Margaret A.

Hum Genet ; 141(3-4): 315-317, 2022 Apr.

Article in English | MEDLINE | ID: mdl-35353226

4.

Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.

Abbasi, Wafaa; French, Courtney E; Rockowitz, Shira; Kenna, Margaret A; Eliot Shearer, A.

Hum Genet ; 141(3-4): 387-400, 2022 Apr.

Article in English | MEDLINE | ID: mdl-34811589

5.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Patel, Mayher J; DiStefano, Marina T; Oza, Andrea M; Hughes, Madeline Y; Wilcox, Emma H; Hemphill, Sarah E; Cushman, Brandon J; Grant, Andrew R; Siegert, Rebecca K; Shen, Jun; Chapin, Alex; Boczek, Nicole J; Schimmenti, Lisa A; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T; Avraham, Karen B; Kremer, Hannie; Griffith, Andrew J; Rehm, Heidi L; Amr, Sami S; Tayoun, Ahmad N Abou.

Genet Med ; 23(11): 2208-2212, 2021 11.

Article in English | MEDLINE | ID: mdl-34230634

6.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G.

Genet Med ; 23(10): 1933-1943, 2021 10.

Article in English | MEDLINE | ID: mdl-34172899

7.

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Stadelmaier, Rachel T; Kenna, Margaret A; Barrett, Devon; Mullen, Thomas E; Bodamer, Olaf; Agrawal, Pankaj B; Robson, Caroline D; Wojcik, Monica H.

Am J Med Genet A ; 185(12): 3770-3783, 2021 12.

Article in English | MEDLINE | ID: mdl-34369642

8.

Incidence, Time Course, and Implications of Electrode Abnormalities in Pediatric Cochlear Implant Recipients.

Harris, Jennifer M; Neault, Marilyn W; O'Neill, Elizabeth E; Griffin, Amanda M; Kawai, Kosuke; Kenna, Margaret A; Licameli, Greg R.

Ear Hear ; 42(2): 334-342, 2021.

Article in English | MEDLINE | ID: mdl-32826503

9.

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Ambrosio, Lucia; Hansen, Ronald M; Moskowitz, Anne; Oza, Andrea; Barrett, Devon; Manganella, Juliana; Medina, Genevieve; Kawai, Kosuke; Fulton, Anne B; Kenna, Margaret.

Doc Ophthalmol ; 143(1): 39-51, 2021 08.

Article in English | MEDLINE | ID: mdl-33511521

10.

Perspective on the Development of a Large-Scale Clinical Data Repository for Pediatric Hearing Research.

Pennington, Jeffrey W; Ruth, Byron; Miller, Jeffrey M; Peterson, Joy; Xu, Baichen; Masino, Aaron J; Krantz, Ian; Manganella, Juliana; Gomes, Tamar; Stiles, Derek; Kenna, Margaret; Hood, Linda J; Germiller, John; Crenshaw, E Bryan.

Ear Hear ; 41(2): 231-238, 2020.

Article in English | MEDLINE | ID: mdl-31408044

11.

Hearing Loss in Children: A Review.

Lieu, Judith E C; Kenna, Margaret; Anne, Samantha; Davidson, Lisa.

JAMA ; 324(21): 2195-2205, 2020 Dec 01.

Article in English | MEDLINE | ID: mdl-33258894

12.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano, Marina T; Hemphill, Sarah E; Oza, Andrea M; Siegert, Rebecca K; Grant, Andrew R; Hughes, Madeline Y; Cushman, Brandon J; Azaiez, Hela; Booth, Kevin T; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A; Tekin, Mustafa; Rehm, Heidi L; Tayoun, Ahmad N Abou; Amr, Sami S.

Genet Med ; 21(10): 2409, 2019 Oct.

Article in English | MEDLINE | ID: mdl-31114025

13.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano, Marina T; Hemphill, Sarah E; Oza, Andrea M; Siegert, Rebecca K; Grant, Andrew R; Hughes, Madeline Y; Cushman, Brandon J; Azaiez, Hela; Booth, Kevin T; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A; Tekin, Mustafa; Rehm, Heidi L; Tayoun, Ahmad N Abou; Amr, Sami S.

Genet Med ; 21(10): 2239-2247, 2019 10.

Article in English | MEDLINE | ID: mdl-30894701

14.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen, Jun; Oza, Andrea M; Del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Wai Choy, Kwong; Cheng, Yen-Fu; Avraham, Karen B; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E; Grant, Andrew R; Siegert, Rebecca K; DiStefano, Marina T; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N.

Genet Med ; 21(11): 2442-2452, 2019 11.

Article in English | MEDLINE | ID: mdl-31160754

15.

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward, Heather L; D'Gama, Alissa M; Wojcik, Monica H; Brownstein, Catherine A; Kenna, Margaret A; Grant, P Ellen; Majzoub, Joseph A; Agrawal, Pankaj B.

Am J Med Genet A ; 179(7): 1299-1303, 2019 07.

Article in English | MEDLINE | ID: mdl-31012281

16.

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

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; Amr, Sami S; Abou Tayoun, Ahmad N.

Hum Mutat ; 39(11): 1593-1613, 2018 11.

Article in English | MEDLINE | ID: mdl-30311386

17.

Ambulatory Visits for Otitis Media before and after the Introduction of Pneumococcal Conjugate Vaccination.

Kawai, Kosuke; Adil, Eelam A; Barrett, Devon; Manganella, Juliana; Kenna, Margaret A.

J Pediatr ; 201: 122-127.e1, 2018 10.

Article in English | MEDLINE | ID: mdl-29958675

18.

Review of Hearing Loss in Children-Reply.

Lieu, Judith E C; Kenna, Margaret; Anne, Samantha.

JAMA ; 325(12): 1224-1225, 2021 03 23.

Article in English | MEDLINE | ID: mdl-33755069

19.

Acute Otitis Media - The Long and the Short of It.

Kenna, Margaret A.

N Engl J Med ; 375(25): 2492-2493, 2016 12 22.

Article in English | MEDLINE | ID: mdl-28002710

20.

Vestibular Preservation in Pediatric Cochlear Implantation.

Licameli, Greg R; Wang, Alicia; Zhou, Guangwei; Faller, David; Kenna, Margaret; Poe, Dennis; Shearer, Eliot; Oster, Linda; Brodsky, Jacob R.

Laryngoscope ; 134(4): 1913-1918, 2024 Apr.

Article in English | MEDLINE | ID: mdl-37584403

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