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: KMT2D: 13951C>T; His4651Tyr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Scientific Reports

Quaio, Caio Robledo D 'Angioli Costa CRD'C; Ceroni, Jose Ricardo Magliocco JRM; Cervato, Murilo Castro MC; Thurow, Helena Strelow HS; Moreira, Caroline Monaco CM; Trindade, Ana Carolina Gomes ACG; Furuzawa, Cintia Reys CR; de Souza, Rafaela Rogerio Floriano RRF; Perazzio, Sandro Felix SF; Dutra, Aurelio Pimenta AP; Chung, Christine Hsiaoyun CH; Kim, Chong Ae CA

Publication Date: 2022-05-11

Variant appearance in text: KMT2D: 13951C>T; His4651Tyr; rs767232021

PubMed Link: 35546177

Variant Present in the following documents:

• 41598_2022_11932_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Thyroid : Official Journal Of The American Thyroid Association

Larrivée-Vanier, Stéphanie S; Jean-Louis, Martineau M; Magne, Fabien F; Bui, Helen H; Rouleau, Guy A GA; Spiegelman, Dan D; Samuels, Mark E ME; Kibar, Zoha Z; Van Vliet, Guy G; Deladoëy, Johnny J

Publication Date: 2022-05

Variant appearance in text: KMT2D: His4651Tyr; rs767232021

PubMed Link: 35272499

Variant Present in the following documents:

• Main text
• thy.2021.0597.pdf

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: KMT2D: 13951C>T; His4651Tyr; rs767232021

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page