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Loke ClinGen 2012
Loke J, Pearlman A, Radi O, Zuffardi O, Giussani U, Pallotta R, Camerino G, Ostrer H. Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. Hum Mol Genet. 23:1073-83, 2014
Loke et al HMG 2014
Loke, J, Pearlman, A, Upadhyag, K, Tesfa, L, Shao, Y, Ostrer, H. Functional Variant Analysis (FVAs) predict patheogenicity in the BRCA1 DNA double -strand break repair pathway Hum Mol Genet, 24:3030-7, 2015
Syeda MM, Upadhyay K, Loke J, Pearlman A, Klugman S, Shao Y, Ostrer H.
Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells. Genet Med. 19:1071-1077, 2017
Upadhyay K, Loke J, O V, Taragin B, Ostrer H. Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin. Clin Genet. 93:412-416, 2018
Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. Hum Mol Genet. 28:1620-1628, 2019
Klugman S, Schnabel F, Alim I, Loke J, Arun B, Chun Kim J, Ostrer H. Health care professionals’ attitudes toward cancer gene panel testing. Breast J. 27:499-500, 2021
Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H. Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells. HGG Adv. 3(2):100085, 2022.
Alim I, Loke J, Yam S, Templeton AS, Newcomb P, Lindor NM, Pai RK, Jenkins MA, Buchanan DD, Gallinger S, Klugman S, Ostrer H. Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency. Genet Med. 24:1821-1830, 2022