Robert J Desnick

发表

Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS)

Yao Yang, Inga Peter, Robert Sebra, 2015, BMC Genomics.

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.

Xiang Zhou, Joel Dudley, Judy H Cho, 2017, Pharmacogenomics.

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

Yusuke Nakamura, Dan M Roden, Matthew Oetjens, 2013, The Lancet.

Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology

Yuhua Song, Ghazala Hashmi, R. Desnick, 2004, Genetics in Medicine.

Enzyme Therapy. V. In Vivo Fate of Erythrocyte-entrapped β-Glucuronidase in β-Glucuronidase-deficient mice

R. Desnick, S. Thorpe, Robert J Desnick, 1975, Pediatric Research.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

Minjie Luo, Stuart A Scott, R. Desnick, 2010, Human mutation.

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

R. Desnick, M. Bialer, Robert J Desnick, 2013, Journal of hepatology.

Genomics and personalized medicine: a perspective.

Robert J Desnick, 2009, Personalized medicine.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Karen B Avraham, Harry Ostrer, Carole Oddoux, 2003, The New England journal of medicine.