Author

Tadahiro Mitani

Baylor College of Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Organism:zebrafish· 2

Frequent Co-Authors

Davut Pehli̇vaniD· 4 shared James R. LupskiiD· 4 shared Jennifer Ellen PoseyiD· 3 shared Alejandro D. IglesiasiD· 2 shared Dana MarafiiD· 2 shared Henry HouldeniD· 2 shared Peter BaueriD· 2 shared Reza MaroofianiD· 2 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Davut Pehli̇vanORCID

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4 papers

Recent·Most cited

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian, Elena Kondakova, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Daniel C. Koboldt, Amy Feldman Lewanda, Pengfei Liu, Dana Marafi, Jennifer Ellen Posey, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, , Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Nature Communications · Feb 17, 2025Peer-reviewedGenetic & Genomic Medicine

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

Zeynep Coban‐Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehli̇van, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt‐Yozgatli, Shalini N. Jhangiani, Donna Marie Muzny, Richard Alan Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, , James R. Lupski

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenomics

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, , James R. Lupski

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

medRxiv · Mar 1, 2023 · PreprintGenetic & Genomic Medicine

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Q. E. Lee, Shan Zhang, Beril Talim, Abigail Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred W. Rensvold, Şule Ünal, Evgenia Shishkova, , Bruno Reversade

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

The American Journal of Human Genetics · May 25, 2021Peer-reviewedGenetic & Genomic Medicine