Jonas Denecke

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 11 papers. Top paper: “Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function”.

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975

N/A

0DataRank · unranked

113 citations

Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck +58 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Cell(2023)10.1016/j.cell.2023.02.023

N/A

0DataRank · unranked

68 citations

Carol Chen, Augusto Faria Andrade, Nisha Kabir, Pariya Azarafshar, Shahir M. Morcos +40 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Neurology(2023)10.1212/wnl.0000000000207550

N/A

0DataRank · unranked

11 citations

Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli +49 more

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 more

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101097

N/A

0DataRank · unranked

10 citations

Young Nyun Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke +17 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more