Jean Tori Pantel

9PUBLICATIONS
141CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Foetal development and medicineGene and molecular therapy
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Publications (9)

|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

|Mar 13, 2024
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.

Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel

|Nov 03, 2023
Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity.

Luis A La Rocca, Julia Frank, Heidi Beate Bentzen

|Feb 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa

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Frequent Collaborators

5 joint publications

Claus-Eric Ott

5 joint publications

Peter M Krawitz

4 joint publications

Martin Atta Mensah

4 joint publications

Tzung-Chien Hsieh