Karin E. M. Diderich

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

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 8 papers. Top paper: “Brain malformations and seizures by impaired chaperonin function of TRiC”.

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0.489DataRank · unranked

25 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort

Prenatal Diagnosis(2024)10.1002/pd.6622

N/A

0.312DataRank · unranked

7 citations

Dineke Westra, Nina C. J. Peters, Martina Wilke, Diane Van Opstal, Ilse Feenstra +5 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in Medicine(2022)10.1016/j.gim.2022.04.010

N/A

0DataRank · unranked

21 citations

Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg +50 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63399

N/A

0DataRank · unranked

4 citations

Alexandrea Wadley, Chun-Hui Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher +15 more

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

Prenatal Diagnosis(2023)10.1002/pd.6466

N/A

0DataRank · unranked

23 citations

Eoghan Laffan, Preethi A. Jacob, Caitlin Baptiste, Heinz Gabriel, Teresa N. Sparks +21 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more