Author

Boris Bartholdy

Albert Einstein College of MedicineORCID 0000-0002-7401-8591Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Assay:long-read sequencing· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abdullah Mesut ErzurumluogluiD· 1 shared Afsana SabriniD· 1 shared Aleksandr Kantorovich· 1 shared Ayodélé AkintayoiD· 1 shared Boehringer Ingelheim – Global Computational Biology and Digital Sciences· 1 shared Boris NoyvertiD· 1 shared Christian BeckeriD· 1 shared Clive R. Wood· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdullah Mesut ErzurumluogluORCID

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2 papers

Recent·Most cited

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

Boris Noyvert, Abdullah Mesut Erzurumluoglu, Dmitriy Drichel, Steffen Omland, Till F. M. Andlauer, Stefanie Mueller, Lau Sennels, Christian Becker, Aleksandr Kantorovich, Boris Bartholdy, Ingrid Brænne, Julio Cesar Bolivar-Lopez, Costas Mistrellides, Gillian M. Belbin, Jeremiah H. Li, , Zhihao Ding

The paper imputes structural variants using a multi-ancestry long-read sequencing panel and identifies disease associations in large-scale datasets.

medRxiv · Dec 20, 2023 · PreprintGenetic & Genomic Medicine

The Golgi Glycoprotein MGAT4D is an Intrinsic Protector of Testicular Germ Cells From Mild Heat Stress

Ayodélé Akintayo, Meng Liang, Boris Bartholdy, Frank Batista, Jennifer T. Aguilan, Jillian M. Prendergast, Afsana Sabrin, Subha Sundaram, Pamela Stanley

This study identifies MGAT4D as a protective factor for male germ cells against mild heat stress, showing that its absence increases sensitivity to heat.

Scientific Reports · Feb 7, 2020Peer-reviewedDevelopmental Biology