Louisa Kalsner

ORCID: 0000-0003-0484-2013

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 4 papers. Top paper: “A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome”.

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.18.590108

N/A

0.165DataRank · unranked

2 citations

Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats +6 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

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64006

N/A

0DataRank · unranked

4 citations

Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats +6 more

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

medRxiv(2025)10.1101/2025.05.19.25327541

N/A

0DataRank · unranked

1 citations

Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker +18 more