Mariëlle Alders

Also affiliated with University of Amsterdam

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 9 papers. Top paper: “Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects”.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

European Journal of Human Genetics(2022)10.1038/s41431-021-01018-1

N/A

0DataRank · unranked

17 citations

Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof +18 more

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

European Journal of Human Genetics(2022)10.1038/s41431-022-01210-x

N/A

0DataRank · unranked

6 citations

Conor McClenaghan, Imke Christiaans, Mariëlle Alders, Kirsten van Duinen, Mieke M. van Haelst +3 more

Prenatal Neun+ Neurons of Down Syndrome Display Aberrant Integrative DNA Methylation and Gene Expression Profiles

Epigenomics(2022)10.2217/epi-2021-0523

N/A

0DataRank · unranked

2 citations

Adri N. Mul, Andrew Y. Li Yim, I. Krzyzewska, Mariëlle Alders, Adelia Adelia +3 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0DataRank · unranked

24 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101873

N/A

0DataRank · unranked

6 citations

M. Gösgens, Alexander J.M. Dingemans, P. Striano, Antonella Riva, C. Mignot +81 more

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

medRxiv(2024)10.1101/2024.07.04.24309755

N/A

0DataRank · unranked

0 citations

Alexa M.C. Vermeer, Pieter G. Postema, Rafik Tadros, Forrest Z. Bowling, Hildur M. Aegisdottir +65 more

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.016

N/A

0DataRank · unranked

2 citations

Alexa M.C. Vermeer, Pieter G. Postema, Rafik Tadros, Forrest Z. Bowling, Hildur M. Aegisdottir +66 more