Publications:

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: PC: 1357C>T; R453W

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257.pdf

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: PC: 1357C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Proline metabolism and transport in retinal health and disease.

Amino Acids

Du, Jianhai J; Zhu, Siyan S; Lim, Rayne R RR; Chao, Jennifer R JR

Publication Date: 2021-12

Variant appearance in text: PC: Arg453Ter

PubMed Link: 33871679

Variant Present in the following documents:

• 726_2021_Article_2981.pdf

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Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Molecular Vision

Zhou, Lin L; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Wang, Panfeng P; Sun, Wenmin W; Zhang, Fengsheng F; Li, Jiazhang J; Li, Tuo T; Zhang, Qingjiong Q

Publication Date: 2018

Variant appearance in text: PC: Arg453Ter

PubMed Link: 30181686

Variant Present in the following documents:

• mv-v24-560.pdf

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: PC: 1357C>T

PubMed Link: 27408750

Variant Present in the following documents:

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