Sledovat
Jean Tori Pantel
Jean Tori Pantel
MD, PhD student, Uniklinik RWTH Aachen, Charité - Universitätsmedizin Berlin
E-mailová adresa ověřena na: charite.de
Název
Citace
Citace
Rok
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ...
Nature genetics 54 (3), 349-357, 2022
1022022
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
882019
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome Medicine 10, 1-13, 2018
872018
Advances in computer‐assisted syndrome recognition by the example of inborn errors of metabolism
JT Pantel, M Zhao, MA Mensah, N Hajjir, TC Hsieh, Y Hanani, N Fleischer, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018
442018
Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study
JT Pantel, N Hajjir, M Danyel, J Elsner, AT Abad-Perez, P Hansen, ...
Journal of medical Internet research 22 (10), e19263, 2020
412020
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ...
Scientific reports 8 (1), 14611, 2018
312018
GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders
H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ...
MedRxiv, 2023
102023
Factors in color fundus photographs that can be used by humans to determine sex of individuals
S Dieck, M Ibarra, I Moghul, MW Yeung, JT Pantel, S Thiele, M Pfau, ...
Translational vision science & technology 9 (7), 8-8, 2020
82020
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings
M Danyel, Z Cheng, C Jung, F Boschann, JT Pantel, N Hajjir, R Flöttmann, ...
European Journal of Human Genetics 27 (12), 1827-1835, 2019
82019
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ...
MedRxiv, 2023.04. 19.23288824, 2023
72023
GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors
TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ...
medRxiv, 2020.12. 28.20248193, 2021
72021
Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders
JT Pantel, M Zhao, MA Mensah, N Hajjir, TC Hsieh, Y Hanani, N Fleischer, ...
bioRxiv, 219394, 2017
72017
A machine learning-based screening tool for genetic syndromes in children
MA Mensah, CE Ott, D Horn, JT Pantel
The Lancet Digital Health 4 (5), e295, 2022
52022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
U Kornak, N Saha, B Keren, A Neumann, ALT Tavares, J Piard, J Kopp, ...
Genetics in Medicine 24 (9), 1927-1940, 2022
32022
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features flow cytometry, and automated image analysis. Genone Med. 10 (1).(2018)
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
22018
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
LL Rocca, J Frank, HB Bentzen, JT Pantel, K Gerischer, A Bovier, ...
bioRxiv, 2021.09. 29.462290, 2021
12021
PEDIA: prioritization of exome data by image analysis
H Tzung-Chien, MA Mensah, JT Pantel, A Dione, B Omri, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
12019
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study
AMV Reiter, JT Pantel, M Danyel, D Horn, CE Ott, MA Mensah
Journal of Medical Internet Research 26, e42904, 2024
2024
GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases.
H Lesmann, A Hustinx, S Moosa, E Marchi, P Caro, IM Abdelrazek, ...
Medrxiv: the Preprint Server for Health Sciences, 2023.06. 06.23290887-2023 …, 2024
2024
Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity
LA La Rocca, J Frank, HB Bentzen, JT Pantel, K Gerischer, A Bovier, ...
American Journal of Medical Genetics Part A 194 (3), e63452, 2024
2024
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Články 1–20