Author

John Richard Seavitt

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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Genetics· 2 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:mouse· 4 Research Focus:database / resource· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:CRISPR screen· 1

Frequent Co-Authors

Jason D. HeaneyiD· 4 shared Mary E. DickinsoniD· 4 shared Ann‐Marie MalloniD· 3 shared Colin McKerlieiD· 3 shared Denise Grant LanzaiD· 3 shared Glauco P. Tocchini‐ValentiniiD· 3 shared K. C. Kent LloydiD· 3 shared Martin Hrabě de AngelisiD· 3 shared

Activity by Year

2019-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Jason D. HeaneyORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

A resource of targeted mutant mouse lines for 5,061 genes

Marie‐Christine Birling, Atsushi Yoshiki, David J. Adams, Shinya Ayabe, Arthur L. Beaudet, Joanna R. BOTTOMLEY, Allan Bradley, Steve D. M. Brown, Antje Bürger, Wendy Bushell, Francesco Chiani, Hsian-Jean Genie Chin, Skevoulla Christou, Gemma F. Codner, Francesco John DeMayo, , Sandy Teichmann

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

Nature Genetics · Apr 1, 2021Peer-reviewedGenetics

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Ronit Marom, Lindsay Catherine Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain, Ingo Grafe, Daryl A. Scott, Jill Anne Rosenfeld, Vernon Reid Sutton, Marwan S. Shinawi, Ghayda Mirzaa, Catherine J DeVile, Rowenna Roberts, Alistair Duncan Calder, , Brendan Lee

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

bioRxiv · Sep 14, 2020 · PreprintGenetics

Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann Marie Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih‐Wei Hsu, Audrey E. Christiansen, Denise Grant Lanza, , A. Siddiq

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

Nature Communications · Jan 31, 2020Peer-reviewedGenomics

Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data

Hamed Haselimashhadi, Jeremy Mason, Violeta Muñoz‐Fuentes, Federico López, Kola Babalola, Elif Fidan Acar, Vivek Kumar, Jacqui K. White, Ann Marie Flenniken, Ruairidh King, Ewan Straiton, John Richard Seavitt, Angelina Gaspero, Arturo Garza, Audrey E. Christianson, , Terrence F. Meehan

The paper introduces a method called soft windowing to improve analysis of high-throughput phenotyping data by reducing false positives and increasing significant results.

Bioinformatics · Oct 4, 2019Peer-reviewedBioinformatics