Manuel Schiff

Also affiliated with Hôpital Necker-Enfants Malades, Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine

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 10 papers. Top paper: “Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?”.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.003

N/A

0.442DataRank · unranked

13 citations

Tomáš Honzík, Andrew C. Edmondson, Can Fıçıcıoğlu, Mercedes Serrano, Rita Barone +13 more

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Genetics in Medicine(2020)10.1038/s41436-019-0739-z

N/A

0DataRank · unranked

33 citations

Emmalie A. Jager, Derk P. Allersma, Ayşe Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray +19 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

A noncoding RNA modulator potentiates phenylalanine metabolism in mice

Science(2021)10.1126/science.aba4991

N/A

0DataRank · unranked

76 citations

Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, Ke Liang +31 more

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 more

Development and characterization of a mouse model for Acad9 deficiency

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.09.002

N/A

0DataRank · unranked

12 citations

Al‐Walid Mohsen, Kailyn Bloom, Anuradha Karunanidhi, Sivakama S. Bharathi, Yijen Wu +6 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 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

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more