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: rs543614309

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Pediatric Critical Care Medicine : A Journal Of The Society Of Critical Care Medicine And The World Federation Of Pediatric Intensive And Critical Care Societies

Sanford, Erica F EF; Clark, Michelle M MM; Farnaes, Lauge L; Williams, Matthew R MR; Perry, James C JC; Ingulli, Elizabeth G EG; Sweeney, Nathaly M NM; Doshi, Ami A; Gold, Jeffrey J JJ; Briggs, Benjamin B; Bainbridge, Matthew N MN; Feddock, Michele M; Watkins, Kelly K; Chowdhury, Shimul S; Nahas, Shareef A SA; Dimmock, David P DP; Kingsmore, Stephen F SF; Coufal, Nicole G NG; ,

Publication Date: 2019-11

Variant appearance in text: PUS3: 1A>G

PubMed Link: 31246743

Variant Present in the following documents:

• Main text

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