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; ,
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Blood Advances
Feurstein, Simone S; Adegunsoye, Ayodeji A; Mojsilovic, Danijela D; Vij, Rekha R; West DePersia, Allison H AH; Rajagopal, Padma Sheila PS; Osman, Afaf A; Collins, Robert H RH; Kim, Raymond H RH; Gore, Steven D SD; Greenberg, Peter P; Godley, Lucy A LA; Li, Zejuan Z; Del Gaudio, Daniela D; Subramanian, Hari Prasanna HP; Das, Soma S; Walsh, Tom T; Gulsuner, Suleyman S; Segal, Jeremy P JP; Husain, Aliya N AN; Gurbuxani, Sandeep S; King, Mary-Claire MC; Strek, Mary E ME; Churpek, Jane E JE
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.
American Journal Of Respiratory And Critical Care Medicine
Ley, Brett B; Torgerson, Dara G DG; Oldham, Justin M JM; Adegunsoye, Ayodeji A; Liu, Shuo S; Li, Jie J; Elicker, Brett M BM; Henry, Travis S TS; Golden, Jeffrey A JA; Jones, Kirk D KD; Dressen, Amy A; Yaspan, Brian L BL; Arron, Joseph R JR; Noth, Imre I; Hoffmann, Thomas J TJ; Wolters, Paul J PJ