Events, Publications and Lectures


Lectures 2018 

Functional Genomic Approaches to Understanding Cancer Risks, Erasmus University Medical Center, Rotterdam, NL, Leiden University Medical Center, NL, University of Geneva, CH

Functional Genomic Approaches to Understanding Developmental Disorders and Cancer Risks, Groningen University, NL

How mutations in signal transduction pathways can cause 46,XY gonadal dysgenesis, 8th International Symposium on Vertebrate Sex Determination, Kona, HI

Functional genomic approaches for understanding the consequences of genetic variation, at Genomics – from Disease Prevention to Treatment Population, Medicine and Society, Haifa, Israel

Functional genomic approaches to address the challenge of variants of uncertain significance, American Society of Human Genetics annual meeting, San Diego, CA

Robust Predictor of Colon Cancer Risk, NCI Colon Cancer Family Registry Steering Committee, Honolulu, HI


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

Ostrer H. Disorders of sex development (DSDs): an update. J Clin Endocrinol Metab. 99:1503-9, 2014 Review;
Ostrer JCEM 2014

Loke, J, Pearlman, A, Upadhyag, K, Tesfa, L, Shao, Y, Ostrer, H. Functional Variant Analysis (FVAs) predict patheogenicity in the BRCA1 DNA dounble -strand break repair pathway Human Molecular Genetics, 2015, Vol. 24, No. 11 3030–3037

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. 2019 Jan 4. doi: 10.1093/hmg/ddz002. [Epub ahead of print]

Chamberlin HMG 2019