Fanny Kortüm

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 8 papers. Top paper: “Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder”.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

Cell Calcium(2020)10.1016/j.ceca.2020.102182

N/A

0DataRank · unranked

7 citations

Frederike L. Harms, Venkat R. Chirasani, Daniel A. Pasek, Fanny Kortüm, Peter Meinecke +4 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

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

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 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

Lower Left Ventricular Ejection Time in MYBPC3 Variant Carriers with Overt or Subclinical Hypertrophic Cardiomyopathy

ESC Heart Failure(2025)10.1002/ehf2.15346

N/A

0DataRank · unranked

2 citations

Zoe Möhring, Daniel Reichart, Fanny Kortüm, Julia Münch, Rixa Woitschach +6 more