Robert J Desnick (R J Desnick, Robert Desnick)

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 9

Top Topics

Single Molecule

Top Venues

Journal of medical Internet research

Genetics in medicine : official journal of the American College of Medical Genetics

Hepatology (Baltimore, Md.)

Science translational medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Janelle Applequist, Cristina M Burroughs, Peter A Merkel, Xiaoting Chen, Bruce C Trapnell, Robert J Desnick, Mustafa Sahin, Jeffrey P Krischer
Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. Journal of medical Internet research 25 (2023)
Janelle Applequist, Cristina M Burroughs, Peter A Merkel, Xiaoting Chen, Bruce C Trapnell, Robert J Desnick, Mustafa Sahin, Jeffrey P Krischer
Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. Journal of medical Internet research 25 (2023)
Janelle Applequist, Cristina M Burroughs, Peter A Merkel, Xiaoting Chen, Bruce C Trapnell, Robert J Desnick, Mustafa Sahin, Jeffrey P Krischer
Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. Journal of medical Internet research 25 (2023)
D Wensink, J G Langendonk, J R Overbey, M Balwani, E J E Van Broekhoven, M A E M Wagenmakers, J H P Wilson, K Wheeden, H Naik, Robert J Desnick
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure. Genetics in medicine : official journal of the American College of Medical Genetics 23 (9) (2021)
Behnam Saberi, Hetanshi Naik, Jessica R Overbey, Angelika L Erwin, Karl E Anderson, D Montgomery Bissell, Herbert L Bonkovsky, John D Phillips, Bruce Wang, Ashwani K Singal, Brendan M McGuire, Robert J Desnick, Manisha Balwani
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology (Baltimore, Md.) 73 (5) (2020)
Mariana Rodrigues Botton, Yao Yang, Erick R Scott, Robert J Desnick, Stuart A Scott
Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing. Genes 11 (11) (2020)
Go Hun Seo, Taeho Kim, In Hee Choi, Jung-Young Park, Jungsul Lee, Sehwan Kim, Dhong-Gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik-Lin Eun, Robert J Desnick, Changwon Keum, Beom-Hee Lee
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clinical genetics 98 (6) (2020)
Ken Y Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan D Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manuel A Rivas, Adam P Levine, Xiuliang Bao, Philippe Ronel Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena R Schiff, Nikolas Pontikos, Nir Barzilai, Steven R Brant, Susan B Bressman, Adam S Cheifetz, Lorraine N Clark, Mark J Daly, Robert J Desnick, Richard H Duerr, Seymour Katz, Todd Lencz, Richard H Myers, Harry Ostrer, Laurie J Ozelius, Haydeh Payami, Yakov Peter, John D Rioux, Anthony Walter Segal, William K Scott, Mark S Silverberg, Jeffery M Vance, Iban Ubarretxena-Belandia, Tatiana M Foroud, Gil Atzmon, Itsik Pe'er, Yiannis Ioannou, Dermot P B McGovern, Zhenyu Yue, Eric E Schadt, Judy H Cho, Inga Peter
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Science translational medicine 10 (423) (2019)
Amy C Yang, Louise E Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)