Jean Tori Pantel
Charité - Universitätsmedizin Berlin
H-index: 7
Europe-Germany
Top articles of Jean Tori Pantel
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study
Journal of Medical Internet Research
2024/3/13
Jean Tori Pantel
H-Index: 5
GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases.
Medrxiv: the Preprint Server for Health Sciences
2024/3/8
Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity
American Journal of Medical Genetics Part A
2024/3
Jean Tori Pantel
H-Index: 5
Anton Bovier
H-Index: 22
Treating pain in patients with Ehlers–Danlos syndrome: Multidisciplinary management of a multisystemic disease
2024/1/8
Jean Tori Pantel
H-Index: 5
Pradeep Chopra
H-Index: 8
Short paths to diagnosis with artificial intelligence: systematic literature review on diagnostic decision support systems
2024/1/2
Jean Tori Pantel
H-Index: 5
Kurze Wege zur Diagnose mit künstlicher Intelligenz–systematische Literaturrecherche zu „diagnostic decision support systems “
2024/1/2
Jean Tori Pantel
H-Index: 5
GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders
medRxiv
2023/6/10
Jean Tori Pantel
H-Index: 5
Behnam Javanmardi
H-Index: 11
Amira Nabil
H-Index: 5
Amal Mohamed
H-Index: 0
Christoffer Nellåker
H-Index: 16
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
MedRxiv
2023/4/25
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Genetics in Medicine
2022/9/1
Uwe Kornak
H-Index: 32
Alexander Neumann
H-Index: 11
Jean Tori Pantel
H-Index: 5
Peter Bauer
H-Index: 15
Björn Fischer-Zirnsak
H-Index: 23
A machine learning-based screening tool for genetic syndromes in children
The Lancet Digital Health
2022/5/1
Jean Tori Pantel
H-Index: 5
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Nature genetics
2022/3
Jean Tori Pantel
H-Index: 5
Behnam Javanmardi
H-Index: 11
Axel Schmidt
H-Index: 11
Matias Wagner
H-Index: 12
Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase
bioRxiv
2021/9/30
11.5 Einsatz von künstlicher Intelligenz in der Diagnostik Seltener führte. Eine wesentliche Errungenschaft hierbei ist, dass sich Erkrankungen
ELSEVIER ESSENTIALS Seltene Erkrankungen: Das Wichtigste für Ärztinnen und Ärzte aller Fachrichtungen
2021/4/20
Jean Tori Pantel
H-Index: 5
GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
medRxiv
2021/1/1
Jean Tori Pantel
H-Index: 5
Behnam Javanmardi
H-Index: 11
Axel Schmidt
H-Index: 11
Matias Wagner
H-Index: 12
Christian Schaaf
H-Index: 35
A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase
arXiv preprint arXiv:2012.04968
2020/12/9
Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study
Journal of medical Internet research
2020/10/22
Jean Tori Pantel
H-Index: 5
Peter Hansen
H-Index: 24
Factors in color fundus photographs that can be used by humans to determine sex of individuals
Translational vision science & technology
2020/6/3
