Desirée E.C. Smith

ORCID: 0000-0003-2053-3392

Also affiliated with Amsterdam University Medical Centers, University of Amsterdam

MedicineBiochemistry, Genetics and Molecular Biology

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 6 papers. Top paper: “Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly”.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Nature Communications(2020)10.1038/s41467-020-17454-4

N/A

2.3DataRank · unranked

89 citations

Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen +10 more

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells

Journal of Biological Chemistry(2025)10.1016/j.jbc.2025.110690

N/A

0.208DataRank · unranked

3 citations

Ryan Shapiro, Leo Qi, Marisa I. Mendes, Desirée E.C. Smith, Qian Zhang +4 more

Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

Molecular Genetics & Genomic Medicine(2025)10.1002/mgg3.70078

N/A

0.165DataRank · unranked

2 citations

Molly E. Kuo, Desirée E.C. Smith, Marisa I. Mendes, Gajja S. Salamons, Marek Nemčovič +5 more

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.04.004

N/A

0DataRank · unranked

17 citations

Desirée E.C. Smith, Trevor O. Kirby, Dana C. Walters, K. Michael Gibson, Soufiane Mahmoudi +13 more

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab123

N/A

0DataRank · unranked

49 citations

Arjan F. Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione +15 more