Elisabeth Mangold

Also affiliated with University Hospital Bonn

Biochemistry, Genetics and Molecular BiologyMedicine

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 6 papers. Top paper: “Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations”.

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100166

N/A

0.344DataRank · unranked

7 citations

Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan Juranek, Anna Siewert +11 more

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms

Genetic Epidemiology(2020)10.1002/gepi.22343

N/A

0DataRank · unranked

7 citations

Gibran Hemani, Corina Lesseur, Valérie Gaborieau, Kerstin U. Ludwig, Elisabeth Mangold +6 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1

N/A

0DataRank · unranked

49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models

Genetics in Medicine(2025)10.1016/j.gim.2025.101625

N/A

0DataRank · unranked

0 citations

Zubair M. Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, María Palomares‐Bralo +10 more