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: TG: I1229T; rs751201719
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A