Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: NLRP3: 628G>A; Asp210Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Epstein-Barr Virus in Burkitt Lymphoma in Africa Reveals a Limited Set of Whole Genome and LMP-1 Sequence Patterns: Analysis of Archival Datasets and Field Samples From Uganda, Tanzania, and Kenya.

Frontiers In Oncology

Liao, Hsiao-Mei HM; Liu, Hebing H; Chin, Pei-Ju PJ; Li, Bingjie B; Hung, Guo-Chiuan GC; Tsai, Shien S; Otim, Isaac I; Legason, Ismail D ID; Ogwang, Martin D MD; Reynolds, Steven J SJ; Kerchan, Patrick P; Tenge, Constance N CN; Were, Pamela A PA; Kuremu, Robert T RT; Wekesa, Walter N WN; Masalu, Nestory N; Kawira, Esther E; Ayers, Leona W LW; Pfeiffer, Ruth M RM; Bhatia, Kishor K; Goedert, James J JJ; Lo, Shyh-Ching SC; Mbulaiteye, Sam M SM

Publication Date: 2022

Variant appearance in text: AII: D210N

PubMed Link: 35340265

Variant Present in the following documents:

• Table_1.xlsx, sheet 13

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: rs372038150

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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