Emilia K. Bijlsma

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 7 papers. Top paper: “Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content”.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Human Molecular Genetics(2020)10.1093/hmg/ddaa051

N/A

0DataRank · unranked

9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 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

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

Human Molecular Genetics(2022)10.1093/hmg/ddac200

N/A

0DataRank · unranked

11 citations

Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota +19 more

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

European Journal of Human Genetics(2023)10.1038/s41431-023-01296-x

N/A

0DataRank · unranked

14 citations

Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein +16 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2317601121

N/A

0DataRank · unranked

4 citations

Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj +29 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more