Publications:

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: SI: L13P; rs1321249210

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Respiratory Syncytial Virus Two-Step Infection Screen Reveals Inhibitors of Early and Late Life Cycle Stages.

Antimicrobial Agents And Chemotherapy

Sake, Svenja M SM; Kosch, Christina C; Blockus, Sebastian S; Haid, Sibylle S; Gunesch, Antonia P AP; Zhang, Xiaoyu X; Friesland, Martina M; Trummer, Sofie B SB; Grethe, Christina C; Kühnel, Anne A; Rückert, Jessica J; Duprex, W Paul WP; Huang, Jiabin J; Rameix-Welti, Marie-Anne MA; Empting, Martin M; Fischer, Nicole N; Hirsch, Anna K H AKH; Schulz, Thomas F TF; Pietschmann, Thomas T

Publication Date: 2022-11-08

Variant appearance in text: SI: L13P

PubMed Link: 36346232

Variant Present in the following documents:

• aac.01032-22-s0001.pdf

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High-throughput suppressor screen demonstrates that RcsF monitors outer membrane integrity and not Bam complex function.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tata, Muralidhar M; Kumar, Santosh S; Lach, Sarah R SR; Saha, Shreya S; Hart, Elizabeth M EM; Konovalova, Anna A

Publication Date: 2021-08-10

Variant appearance in text: SI: L13P

PubMed Link: 34349021

Variant Present in the following documents:

• Main text

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Proteome-wide observation of the phenomenon of life on the edge of solubility.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Vecchi, Giulia G; Sormanni, Pietro P; Mannini, Benedetta B; Vandelli, Andrea A; Tartaglia, Gian Gaetano GG; Dobson, Christopher M CM; Hartl, F Ulrich FU; Vendruscolo, Michele M

Publication Date: 2020-01-14

Variant appearance in text: SI: L13P

PubMed Link: 31892536

Variant Present in the following documents:

• pnas.1910444117.sapp.pdf

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Inhibitor of intramembrane protease RseP blocks the σE response causing lethal accumulation of unfolded outer membrane proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Konovalova, Anna A; Grabowicz, Marcin M; Balibar, Carl J CJ; Malinverni, Juliana C JC; Painter, Ronald E RE; Riley, Daniel D; Mann, Paul A PA; Wang, Hao H; Garlisi, Charles G CG; Sherborne, Brad B; Rigel, Nathan W NW; Ricci, Dante P DP; Black, Todd A TA; Roemer, Terry T; Silhavy, Thomas J TJ; Walker, Scott S SS

Publication Date: 2018-07-10

Variant appearance in text: SI: L13P

PubMed Link: 29941590

Variant Present in the following documents:

• Main text

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