Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome

Authors: Wafa, Talah T., Faridi, Rabia, King, Kelly A., Zalewski, Christopher, Yousaf, Rizwan, Schultz, Julie M., Morell, Robert J., Muskett, Julie, Turriff, Amy, Tsilou, Ekaterini, Griffith, Andrew J., Friedman, Thomas B., Zein, Wadih M., Brewer, Carmen C.

Source: Clinical genetics. 99(2):226-235

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114637481.0x000001&indx=1&recIds=ETOCvdc_100114637481.0x000001

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

Authors: Kane, Megan, Zhao, Jia, Muskett, Julie, Diplock, Amelia, Srivastava, Siddharth, Hauser, Natalie, Deeken, John, Niederhuber, John, Smith, Wendy, Vilboux, Thierry, Ebrahimi-Fakhari, Darius

Source: Neuropediatrics. 50(4):257-261

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NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

Authors: Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Chae, Jae Jin, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Park, Yong Hwan, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L., Goldbach-Mansky, Raphaela, Griffith, Andrew J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Sep 01. 114(37), E7766-E7775.

Access URL: https://www.jstor.org/stable/26487724

Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation

Authors: Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Muskett, Julie A., Kim, H. Jeffrey, Brewer, Carmen C., Griffith, Andrew J.

Source: Otology & neurotology. 39(3):e181-e185

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100055300361.0x000001&indx=1&recIds=ETOCvdc_100055300361.0x000001

Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct

Authors: Zalewski, Chris K., Chien, Wade W., King, Kelly A., Muskett, Julie A., Baron, Rachel E., Butman, John A., Griffith, Andrew J., Brewer, Carmen C.

Source: Otolaryngology and head and neck surgery. 153(2):257-262

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN602488103&indx=1&recIds=ETOCRN602488103

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Patient Care Situations Benefiting from Pharmacogenomic Testing.

Authors: Mills, Rachel A., Eichmeyer, Jennifer N., Williams, Leah M., Muskett, Julie A., Schmidlen, Tara J., Maloney, Kristin A., Lemke, Amy A.

Source: Current Genetic Medicine Reports; Jun2018, Vol. 6 Issue 2, p43-51, 9p

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Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation.

Authors: Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Muskett, Julie A., Kim, H. Jeffrey, Brewer, Carmen C., Griffith, Andrew J., Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto

Source: Otology & Neurotology; Mar2018, Vol. 39 Issue 3, pe818-e185, 5p

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Authors: Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Jae Jin Chae, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Yong Hwan Park, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L.

Source: Proceedings of the National Academy of Sciences of the United States of America; 9/12/2017, Vol. 114 Issue 37, pE7766-E7775, 10p

Subject Terms: ACOUSTIC nerve diseases, GENETIC mutation, HEARING disorders, MACROPHAGES, MONOCYTES, INFLAMMASOMES

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Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3Mutation and Cochlear Autoinflammation

Authors: Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Muskett, Julie A., Kim, H. Jeffrey, Brewer, Carmen C., Griffith, Andrew J.

Source: Otology & Neurotology; March 2018, Vol. 39 Issue: 3 pe181-e185, 5p

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eP138 - Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb.

Authors: Muskett, Julie (AUTHOR), Nimrichter, Sarah (AUTHOR), Zori, Roberto (AUTHOR), Wang, Zhenyuan (AUTHOR)

Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS91-S92. 2p.

Subject Terms: *INTELLECTUAL disabilities

Hereditary Hearing Loss with Thyroid Abnormalities.

Authors: Choi, Byung Yoon, Muskett, Julie, King, Kelly A., Zalewski, Christopher K., Shawker, Thomas, Reynolds, James C., Butman, John A., Brewer, Carmen C., Stewart, Andrew K., Alper, Seth L., Griffith, Andrew J.

Source: Advances in Oto-Rhino-Laryngology; 2011, Vol. 71, p43-49, 7p

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Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.

Authors: Chien, Wade W., Zalewski, Chris K., King, Kelly A., Muskett, Julie A., Butman, John A., Brewer, Carmen C., Griffith, Andrew J.

Source: Otolaryngology-Head & Neck Surgery; Sep2014 Supplement S1, Vol. 151, pP99-P99, 1p