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: NLRP3: 386A>G; Lys129Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs188623199

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: rs188623199

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience

Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P

Publication Date: 2022-04-15

Variant appearance in text: NLRP3: K129R

PubMed Link: 35391832

Variant Present in the following documents:

• mmc8.xlsx, sheet 1

View BVdb publication page

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The Pathogenesis of Eosinophilic Asthma: A Positive Feedback Mechanism That Promotes Th2 Immune Response via Filaggrin Deficiency.

Frontiers In Immunology

Gao, Wei W; Gong, Jiuyu J; Mu, Mi M; Zhu, Yujin Y; Wang, Wenjuan W; Chen, Wen W; Han, Guojing G; Hu, Hong H; Bao, Pengtao P

Publication Date: 2021

Variant appearance in text: rs188623199

PubMed Link: 34484176

Variant Present in the following documents:

• Main text
• fimmu-12-672312.pdf

View BVdb publication page

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ESX secretion system: The gatekeepers of mycobacterial survivability and pathogenesis.

European Journal Of Microbiology & Immunology

Roy, Sadhana S; Ghatak, Debika D; Das, Payel P; BoseDasgupta, Somdeb S

Publication Date: 2020-11-10

Variant appearance in text: NLRP3: K129R

PubMed Link: 33174865

Variant Present in the following documents:

• Main text

View BVdb publication page

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RUNX3 methylation drives hypoxia-induced cell proliferation and antiapoptosis in early tumorigenesis.

Cell Death And Differentiation

Lee, Sun Hee SH; Hyeon, Do Young DY; Yoon, Soo-Hyun SH; Jeong, Ji-Hak JH; Han, Saeng-Myung SM; Jang, Ju-Won JW; Nguyen, Minh Phuong MP; Chi, Xin-Zi XZ; An, Sojin S; Hyun, Kyung-Gi KG; Jung, Hee-Jung HJ; Song, Ji-Joon JJ; Bae, Suk-Chul SC; Kim, Woo-Ho WH; Hwang, Daehee D; Lee, You Mie YM

Publication Date: 2021-04

Variant appearance in text: NLRP3: K129R

PubMed Link: 33116296

Variant Present in the following documents:

• Main text
• 41418_2020_Article_647.pdf

View BVdb publication page

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RUNX3 methylation drives hypoxia-induced cell proliferation and antiapoptosis in early tumorigenesis.

Cell Death And Differentiation

Lee, Sun Hee SH; Hyeon, Do Young DY; Yoon, Soo-Hyun SH; Jeong, Ji-Hak JH; Han, Saeng-Myung SM; Jang, Ju-Won JW; Nguyen, Minh Phuong MP; Chi, Xin-Zi XZ; An, Sojin S; Hyun, Kyung-Gi KG; Jung, Hee-Jung HJ; Song, Ji-Joon JJ; Bae, Suk-Chul SC; Kim, Woo-Ho WH; Hwang, Daehee D; Lee, You Mie YM

Publication Date: 2021-04

Variant appearance in text: NLRP3: K129R

PubMed Link: 33116296

Variant Present in the following documents:

• Main text
• 41418_2020_Article_647.pdf

View BVdb publication page

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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: rs188623199

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry And Biophysics Reports

Nakayama, Manabu M; Oda, Hirotsugu H; Nakagawa, Kenji K; Yasumi, Takahiro T; Kawai, Tomoki T; Izawa, Kazushi K; Nishikomori, Ryuta R; Heike, Toshio T; Ohara, Osamu O

Publication Date: 2017-03

Variant appearance in text: rs188623199

PubMed Link: 28956000

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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