Publications

Loke J, Ostrer H. Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. Clin Genet. 81:272-7, 2012
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

Loke HMG 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

Syeda GIM 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

Upadhyay Clin Genet 2017

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

Chamberlin HMG 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

Klugman Breast J 2021