Author

Scottish Genomes Partnership

Columbia University Irving Medical Center

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

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Timothy J. AitmaniD· 3 shared Alison M. MeynertiD· 2 shared Christopher O’CallaghaniD· 2 shared Don S. UrquhartiD· 2 shared Holly A. BlackiD· 2 shared Javier Santoyo‐LópeziD· 2 shared Joseph A. MarshiD· 2 shared Kenneth A. MacleodiD· 2 shared

Activity by Year

2023-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Timothy J. AitmanORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Carolin Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, , Pleasantine Mill

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

Science · Apr 25, 2024Peer-reviewedGenetic & Genomic Medicine

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

Holly A. Black, Sophie Marion de Procé, Jose L Campos, Alison M. Meynert, Mihail R. Halachev, Joseph A. Marsh, Robert Anthony Hirst, Christopher O’Callaghan, Scottish Genomes Partnership, Javier Santoyo‐López, Jennie Murray, Kenneth A. Macleod, Don S. Urquhart, Stefan Achim Unger, Timothy J. Aitman, Pleasantine Mill

This study shows that whole genome sequencing (WGS) can achieve a high diagnostic rate for primary ciliary dyskinesia by identifying structural variants and novel disease genes.

medRxiv · Feb 21, 2024 · PreprintGenetic & Genomic Medicine

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane Araújo Martins Moreno, Zhong Ren, Hemali P. Phatnani, Timothy J. Aitman, Javier Santoyo‐López, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms

medRxiv · Sep 30, 2023 · PreprintGenetic & Genomic Medicine