Topic: Common variants in rare disease and impacts on candidate pathogenic variant interpretation

Smail C†, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Genomic Answers for Kids Consortium, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T†. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nature Communications, 18 Sep 2024.

Topic: Functional rare variant interpretation using pluripotent cell transcriptomics

Bonder MJ*, Smail C*, Gloudemans MJ, Frésard L, Jakubosky D, D’Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton D, Cai N, Horta D, HipSci Consortium, iPSCORE Consortium, GENESiPS Consortium, PhLiPS Consortium, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nature Genetics, 4 Mar 2021.

Topic: Estimating the combined phenotypic effects of molecular-outlier rare variants on complex diseases

Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV, Million Veteran Program, Rivas MA, Montgomery SB. Integration of rare expression outlier-associated variants improves polygenic risk prediction. AJHG, 18 May 2022.

Topic: Solving undiagnosed rare diseases using large-scale transcriptomics

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nature Medicine, 3 Jun 2019.