Publications:

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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: TBC1D24: 169C>T; Arg57Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Genes

Clabout, Thomas T; Maes, Laurence L; Acke, Frederic F; Wuyts, Wim W; Van Schil, Kristof K; Coucke, Paul P; Janssens, Sandra S; De Leenheer, Els E

Publication Date: 2022-12-29

Variant appearance in text: TBC1D24: 169C>T

PubMed Link: 36672845

Variant Present in the following documents:

• genes-14-00105.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: TBC1D24: R57C

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Plos One

Oliver, Gavin R GR; Tang, Xiaojia X; Schultz-Rogers, Laura E LE; Vidal-Folch, Noemi N; Jenkinson, W Garrett WG; Schwab, Tanya L TL; Gaonkar, Krutika K; Cousin, Margot A MA; Nair, Asha A; Basu, Shubham S; Chanana, Pritha P; Oglesbee, Devin D; Klee, Eric W EW

Publication Date: 2019

Variant appearance in text: TBC1D24: R57C

PubMed Link: 31577830

Variant Present in the following documents:

• pone.0223337.s002.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs202162520

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TBC1D24: R57C; rs202162520

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TBC1D24: 169C>T; Arg57Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: TBC1D24: 169C>T; R57C

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The genetic basis of DOORS syndrome: an exome-sequencing study.

The Lancet. Neurology

Campeau, Philippe M PM; Kasperaviciute, Dalia D; Lu, James T JT; Burrage, Lindsay C LC; Kim, Choel C; Hori, Mutsuki M; Powell, Berkley R BR; Stewart, Fiona F; Félix, Têmis Maria TM; van den Ende, Jenneke J; Wisniewska, Marzena M; Kayserili, Hülya H; Rump, Patrick P; Nampoothiri, Sheela S; Aftimos, Salim S; Mey, Antje A; Nair, Lal D V LD; Begleiter, Michael L ML; De Bie, Isabelle I; Meenakshi, Girish G; Murray, Mitzi L ML; Repetto, Gabriela M GM; Golabi, Mahin M; Blair, Edward E; Male, Alison A; Giuliano, Fabienne F; Kariminejad, Ariana A; Newman, William G WG; Bhaskar, Sanjeev S SS; Dickerson, Jonathan E JE; Kerr, Bronwyn B; Banka, Siddharth S; Giltay, Jacques C JC; Wieczorek, Dagmar D; Tostevin, Anna A; Wiszniewska, Joanna J; Cheung, Sau Wai SW; Hennekam, Raoul C RC; Gibbs, Richard A RA; Lee, Brendan H BH; Sisodiya, Sanjay M SM

Publication Date: 2014-01

Variant appearance in text: TBC1D24: 169C>T; Arg57Cys

PubMed Link: 24291220

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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