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Research Interests

Papers共 160 篇Author StatisticsCo-AuthorSimilar Experts

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ClinGen Recuration of Hearing Loss-Associated Genes Demonstrates Significant Changes in Gene-Disease Validity over Time
Kezang C Tshering,Marina T DiStefano,Andrea M Oza,Pamela Ajuyah, Ryan Webb, Enyonam Edoh, Ellie Broeren, Julie Ratliff, Vanessa Gitau, Kelley Paris, Amal Aburyyan, John Alexander,Victoria Albano, Donglin Bai, Kevin T A Booth,Paula I Buonfiglio,Cherine Charfeddine,Viviana Dalamón,Ignacio Del Castillo,Miguel Angel Moreno-Pelayo,Hatice Duzkale, Ben Dorshorst,Rabia Faridi,Margaret Kenna,Morag A Lewis,Minjie Luo, Yu Lu,Rahma Mkaouar,Tatsuo Matsunaga,Kiyomitsu Nara,Arti Pandya,Shelby Redfield,Isabelle Roux,Lisa A Schimmenti,Isabelle Schrauwen,Sherin Shaaban,Jun Shen,Barbara Vona,Richard J Smith,Heidi L Rehm,Hela Azaiez,Ahmad N Abou Tayoun,Sami S Amr, ClinGen Hearing Loss Clinical Domain Working Group
Genetics in medicine official journal of the American College of Medical Geneticsno. 5 (2025): 101392-101392
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A Case of Congenital Heart Defects and Familial Exudative Vitreoretinopathy Caused by Activation of a Cryptic Splice Donor in NOTCH1
Joseph Farris, Camila Dergam-Larson, Madeline Lopour, Kahlen Darr,Lisa A. Schimmenti, Brittni A. Scruggs, Laura J. Lambert,Eric W. Klee
BMC Medical Genomicsno. 1 (2025): 1-7
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Vital Dye Uptake of YO-PRO-1 and DASPEI Depends Upon Mechanoelectrical Transduction Function in Zebrafish Hair Cells
Ashley Scott Patterson,Joseph Dugdale,Alaa Koleilat, Anna Krauss, Gabriel A. Hernandez-Herrera, Jasmine G. Wallace,Cassidy Petree,Gaurav K. Varshney,Lisa A. Schimmenti
Journal of the Association for Research in Otolaryngology JAROno. 6 (2024): 531-543
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Lost in the Sauce: an Atypical Cause of Optic Neuropathy
Jessica A Kraker,Zinandre Stander,Devin Oglesbee,Lisa A Schimmenti,John J Chen
Journal of neuro-ophthalmology the official journal of the North American Neuro-Ophthalmology Societyno. 2 (2024): e147-e149
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Hearing loss
Alaa Koleilat,Lisa A. Schimmenti,Karthik Muthusamy
Neurogenetics for the Practitionerpp.305-325, (2024)
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Author Statistics

#Papers: 161

#Citation: 4510

H-Index: 31

G-Index: 65

Sociability: 7

Diversity: 3

Activity: 13

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