Pernille Mathiesen Tørring

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 4 papers. Top paper: “Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder”.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.017

N/A

0DataRank · unranked

26 citations

Ulrich A. Schatz, Pernille Mathiesen Tørring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch‐Andersen +11 more

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62976

N/A

0DataRank · unranked

12 citations

Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza‐Meireles +48 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 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