Publications:

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: PKD1: 116G>A; Cys39Tyr

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects.

Frontiers In Medicine

Alsafwani, Rabab Said RS; Nasser, Khalidah K KK; Shinawi, Thoraia T; Banaganapalli, Babajan B; ElSokary, Hanan Abdelhalim HA; Zaher, Zhaher F ZF; Shaik, Noor Ahmad NA; Abdelmohsen, Gaser G; Al-Aama, Jumana Yousuf JY; Shapiro, Adam J AJ; O Al-Radi, Osman O; Elango, Ramu R; Alahmadi, Turki T

Publication Date: 2021

Variant appearance in text: PKD1: 116G>A

PubMed Link: 34589502

Variant Present in the following documents:

• fmed-08-724826.pdf

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Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn

Hofherr, Alexis A; Köttgen, Michael M

Publication Date: 2013-10

Variant appearance in text: PKD1: C39Y

PubMed Link: 24009236

Variant Present in the following documents:

• Main text

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Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Journal Of The American Society Of Nephrology : Jasn

Freedman, Benjamin S BS; Lam, Albert Q AQ; Sundsbak, Jamie L JL; Iatrino, Rossella R; Su, Xuefeng X; Koon, Sarah J SJ; Wu, Maoqing M; Daheron, Laurence L; Harris, Peter C PC; Zhou, Jing J; Bonventre, Joseph V JV

Publication Date: 2013-10

Variant appearance in text: PKD1: C39Y

PubMed Link: 24009235

Variant Present in the following documents:

• Main text

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