🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Nicholas Ah Mew

Children's National

ORCID: 0000-0002-8790-6432

Also affiliated with George Washington University, National Hospital

Biochemistry, Genetics and Molecular BiologyMedicine

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 12 papers. Top paper: “1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)”.

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Genetics in Medicine(2021)10.1038/s41436-021-01143-8
N/A
0.688DataRank · unranked
16 citations

Alexandra Pass, Elizabeth A. Harrington, Jennifer L. Sloan, Jack Gagné, Samantha McCoy +16 more

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

Human Mutation(2020)10.1002/humu.23983
N/A
0DataRank · unranked
26 citations

Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C.S. Nagamani, Andrea Gropman +29 more

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.007
N/A
0DataRank · unranked
20 citations

Nicholas Ah Mew, Hilary J. Vernon, Rebecca Ganetzky, Ryan H. Peretz

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308
N/A
0DataRank · unranked
20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

The functional impact of 1,570 individual amino acid substitutions in human OTC

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.019
N/A
0DataRank · unranked
23 citations

Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr +7 more

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Genetics in Medicine(2023)10.1016/j.gim.2023.101039
N/A
0DataRank · unranked
12 citations

Sven F. Garbade, Florian Gleich, Svenja Scharré, Jürgen G. Okun, Andrea Gropman +54 more

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.06.013
N/A
0DataRank · unranked
4 citations

John M. Schreiber, Wei-Liang Chen, John R. Barber, Anqing Zhang, Nicholas Ah Mew +5 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325
N/A
0DataRank · unranked
3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.04.007
N/A
0DataRank · unranked
0 citations

Steven A. Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman +2 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574
N/A
0DataRank · unranked
5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Scientific Reports(2020)10.1038/s41598-020-67496-3
N/A
0DataRank · unranked
19 citations

Sven F. Garbade, Florian Gleich, Andrea Gropman, Pascale de Lonlay, Georg F. Hoffmann +58 more

Two commonly reported incidental variants in OTC are associated with late-onset disease

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100531
N/A
0DataRank · unranked
0 citations

Russell S. Lo, Gareth A. Cromie, Aimée M. Dudley, Nicholas Ah Mew, Kara Simpson +9 more