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: PC: S122C; rs750387125

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A Quantitative Model for Optical Coherence Tomography.

Sensors (Basel, Switzerland)

Veselka, Leopold L; Krainz, Lisa L; Mindrinos, Leonidas L; Drexler, Wolfgang W; Elbau, Peter P

Publication Date: 2021-10-15

Variant appearance in text: PC: S122C

PubMed Link: 34696077

Variant Present in the following documents:

• sensors-21-06864.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PC: S122C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Utilizing polarization-selective mode shaping by chalcogenide thin film to enhance the performance of graphene-based integrated optical devices.

Scientific Reports

Nikbakht, Hamed H; Latifi, Hamid H; Parsanasab, Gholam-Mohammad GM; Taghavi, Majid M; Riyahi, Maryam M

Publication Date: 2019-08-27

Variant appearance in text: PC: S122C

PubMed Link: 31455797

Variant Present in the following documents:

• Main text
• 41598_2019_Article_48890.pdf

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Polarization-multiplexed, dual-beam swept source optical coherence tomography angiography.

Journal Of Biophotonics

Yang, Jianlong J; Chandwani, Rahul R; Zhao, Rui R; Wang, Zhuo Z; Jia, Yali Y; Huang, David D; Liu, Gangjun G

Publication Date: 2018-03

Variant appearance in text: PC: S122C

PubMed Link: 29215796

Variant Present in the following documents:

• Main text

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