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: PKD1: W3842R; rs1057518959

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PKD1: 11524T>C; W3842R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Scientific Reports

Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC

Publication Date: 2019-03-11

Variant appearance in text: PKD1: 11524T>C; Trp3842Arg

PubMed Link: 30858458

Variant Present in the following documents:

• Main text
• 41598_2019_Article_40761.pdf

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Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Journal Of The American Society Of Nephrology : Jasn

Hogan, Marie C MC; Bakeberg, Jason L JL; Gainullin, Vladimir G VG; Irazabal, Maria V MV; Harmon, Amber J AJ; Lieske, John C JC; Charlesworth, M Cristine MC; Johnson, Kenneth L KL; Madden, Benjamin J BJ; Zenka, Roman M RM; McCormick, Daniel J DJ; Sundsbak, Jamie L JL; Heyer, Christina M CM; Torres, Vicente E VE; Harris, Peter C PC; Ward, Christopher J CJ

Publication Date: 2015-07

Variant appearance in text: PKD1: W3842R

PubMed Link: 25475747

Variant Present in the following documents:

• Main text

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