Paulien A. Terhal

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 5 papers. Top paper: “Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay”.

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Human Molecular Genetics(2020)10.1093/hmg/ddaa078

N/A

0DataRank · unranked

30 citations

Xiao Mao, Richard H. van Jaarsveld, Li Shu, Paulien A. Terhal, Zhengjun Jia +8 more

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

eLife(2022)10.7554/elife.79278

N/A

0DataRank · unranked

37 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.02.486804

N/A

0DataRank · unranked

3 citations

Jan Parolek, Mads Møller Foged, Dmytro I. Danylchuk, Manuel Bozan, Bingshati Sarkar +12 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0DataRank · unranked

24 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more