J. Loke

发表

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

H. Ostrer, Robert Huether, A. Chamberlin, 2019, Human molecular genetics.

A DDX5 S480A Polymorphism Is Associated with Increased Transcription of Fibrogenic Genes in Hepatic Stellate Cells*

S. Friedman, J. Sninsky, D. Mann, 2009, The Journal of Biological Chemistry.

Functional linkage of cirrhosis‐predictive single nucleotide polymorphisms of toll‐like receptor 4 to hepatic stellate cell responses

Olivia T. Abar, S. Friedman, J. Sninsky, 2009, Hepatology.

Downregulation of hepatic stellate cell activation by retinol and palmitate mediated by adipose differentiation‐related protein (ADRP)

S. Friedman, K. Mak, Yun-Lian Lin, 2010, Journal of cellular physiology.

Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency.

H. Ostrer, S. Gallinger, P. Newcomb, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer Risks.

H. Ostrer, V. Fofanov, S. Freedland, 2019, The Journal of molecular diagnostics : JMD.

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells

H. Ostrer, K. Onel, D. Tegay, 2022, HGG advances.

Health care professionals’ attitudes toward cancer gene panel testing

H. Ostrer, B. Arun, F. Schnabel, 2021, The breast journal.

Hepatic stellate cells express functional CXCR4: Role in stromal cell–derived factor‐1α–mediated stellate cell activation

Ritu Agarwal, A. Branch, M. Schwartz, 2009, Hepatology.

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

H. Ostrer, A. Sinclair, G. Camerino, 2010, American journal of human genetics.

Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions

H. Ostrer, A. Pearlman, M. T. Rahman, 2019, PloS one.

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

H. Ostrer, A. Pearlman, Y. Shao, 2017, Genetics in Medicine.

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

H. Ostrer, A. Pearlman, Y. Shao, 2015, Human molecular genetics.

Break Repair Pathway

H. Ostrer, A. Pearlman, Y. Shao, 2015 .

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

H. Ostrer, G. Camerino, O. Zuffardi, 2014, Human molecular genetics.

Robust genomic copy number predictor of pan cancer metastasis

H. Ostrer, S. Freedland, S. Fineberg, 2018, Genes & cancer.

Ras promotes growth by alternative splicing-mediated inactivation of the KLF6 tumor suppressor in hepatocellular carcinoma.

S. Friedman, J. Llovet, J. Martignetti, 2008, Gastroenterology.

Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects

H. Ostrer, J. Loke, 2012, Clinical genetics.

Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin

H. Ostrer, K. Upadhyay, B. Taragin, 2018, Clinical genetics.