Zafer Yüksel
11PUBLICATIONS
216CO-AUTHORS
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Publications (11)
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|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.Leonardo Chimirri, J Harry Caufield, Yasemin Bridges
|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.Michael A Gargano, Nicolas Matentzoglu, Ben Coleman
|Nov 05, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.Laura J Grange, John J Reynolds, Farid Ullah
|Aug 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya
|Mar 13, 2021
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.Tuba Dinçer, Evren Gümüş, Bayram Toraman
|Mar 01, 2021
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.Deniz Torun, Mutluay Arslan, Zafer Yüksel
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Frequent Collaborators
2 joint publications
Bert Ba de Vries
2 joint publications
Dominik Seelow
2 joint publications
Pablo Lapunzina
2 joint publications
Alexander Jm Dingemans
2 joint publications
Justin Reese
2 joint publications
J Harry Caufield
2 joint publications
Soichi Ogishima
2 joint publications
Markus S Ladewig
2 joint publications
Nicolas Matentzoglu
2 joint publications
Michael Gargano
