Robert J. Desnick

MedicineBiochemistry, Genetics and Molecular BiologyChemistry

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 9 papers. Top paper: “A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria”.

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Molecular Genetics and Metabolism Reports(2022)10.1016/j.ymgmr.2022.100939

N/A

0.668DataRank · unranked

11 citations

Hetanshi Naik, Jessica Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang +4 more

Pain in acute hepatic porphyrias: Updates on pathophysiology and management

Frontiers in Neurology(2022)10.3389/fneur.2022.1004125

N/A

0DataRank · unranked

19 citations

Elena Pischik, Robert J. Desnick, Mohamed Kazamel

Types A and B Niemann‐Pick Disease

PubMed(2022)10.1002/9781119697312.ch13

N/A

0DataRank · unranked

17 citations

Robert J. Desnick, Edward H. Schuchman, Melissa Wasserstein

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.012

N/A

0DataRank · unranked

33 citations

Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli +20 more

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules(2023)10.3390/biom14010027

N/A

0DataRank · unranked

11 citations

Sang Mi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips +1 more

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.02.06.527353

N/A

0DataRank · unranked

4 citations

Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Marinella Gebbia +19 more

Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA–mediated silencing

Science(2024)10.1126/science.adp9388

N/A

0DataRank · unranked

16 citations

Sangmi Lee, Robert J. Desnick, Makiko Yasuda, Eric C Lai, Seungjae Lee

ABCB6 polymorphisms are not overly represented in patients with porphyria

Blood Advances(2021)10.1182/bloodadvances.2021005484

N/A

0DataRank · unranked

5 citations

Gaël Nicolas, Robert J. Desnick, Charles J. Parker, J. Lamoril, Laurent Gouya +6 more

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International(2025)10.1111/liv.70156

N/A

0DataRank · unranked

1 citations

Nanditha Lakshmi Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson +7 more