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: TMPRSS3: 218G>A

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Nature Communications

Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2022-02-04

Variant appearance in text: TMPRSS3: 218G>A

PubMed Link: 35121750

Variant Present in the following documents:

• 41467_2022_28330_MOESM4_ESM.xlsx, sheet 1

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TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.

Frontiers In Genetics

Moon, In Seok IS; Grant, Andrew R AR; Sagi, Varun V; Rehm, Heidi L HL; Stankovic, Konstantina M KM

Publication Date: 2021

Variant appearance in text: TMPRSS3: 218G>A; Cys73Tyr

PubMed Link: 34868270

Variant Present in the following documents:

• Main text
• fgene-12-780874.pdf

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Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.

Scientific Reports

Lechowicz, Urszula U; Gambin, Tomasz T; Pollak, Agnieszka A; Podgorska, Anna A; Stawinski, Piotr P; Franke, Andre A; Petersen, Britt-Sabina BS; Firczuk, Malgorzata M; Oldak, Monika M; Skarzynski, Henryk H; Ploski, Rafal R

Publication Date: 2017-05-31

Variant appearance in text: TMPRSS3: 218G>A; C73Y

PubMed Link: 28566687

Variant Present in the following documents:

• Main text
• 41598_2017_2315_MOESM1_ESM.pdf
• 41598_2017_Article_2315.pdf

View BVdb publication page