One thousand plant transcriptomes and the phylogenomics of green plants
- James H. Michael S. Eric J. Michael K. Matthew A. Sean W Leebens-Mack Barker Carpenter Deyholos Gitzendanne, J. Leebens-Mack, G. Wong
- Biology, Environmental ScienceNature
- 7 October 2019
It is found that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns.
Recently Formed Polyploid Plants Diversify at Lower Rates
- I. Mayrose, S. Zhan, S. Otto
- BiologyScience
- 2 September 2011
Likelihood-based analyses indicate that polyploids generally exhibit lower speciation rates and higher extinction rates than diploids, providing the first quantitative corroboration of the dead-end hypothesis.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
- J. Halbritter, A. Bizet, F. Hildebrandt
- Medicine, BiologyAmerican Journal of Human Genetics
- 7 November 2013
Mutations in EZH2 cause Weaver syndrome.
- W. Gibson, R. Hood, Steven J. M. Jones
- MedicineAmerican Journal of Human Genetics
- 13 January 2012
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
- M. Demos, C. V. van Karnebeek, J. Friedman
- Psychology, BiologyOrphanet Journal of Rare Diseases
- 28 January 2014
This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome, a condition previously demonstrated to cause rapid-onset dystonia-parkinsonism or alternating hemiplegia of childhood.
Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma
- A. Dubuc, M. Remke, Michael D. Taylor
- BiologyActa Neuropathologica
- 1 March 2013
Targeted re-sequencing identified mutations of MLL2 in 8% of MBs, and found that PRC2-mediated aberrant methylation of H3K27 has recently been targeted for therapy in other diseases, and represents an actionable target for a substantial percentage of medulloblastoma patients with aggressive forms of the disease.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
- D. Doherty, A. Chudley, T. Zelinski
- Medicine, BiologyAmerican Journal of Human Genetics
- 8 June 2012
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- P. Chetaille, Christoph Preuss, G. Andelfinger
- Medicine, BiologyNature Genetics
- 1 November 2014
It is shown that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome, a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia in 16 French Canadians and 1 Sweden.
COVID-19 CG enables SARS-CoV-2 mutation and lineage tracking by locations and dates of interest
- Albert T. Chen, Kevin Altschuler, S. Zhan, Y. A. Chan, Benjamin E. Deverman
- BiologyeLife
- 23 February 2021
Case studies are described in which users can interrogate SNVs in the SARS-CoV-2 spike receptor binding domain (RBD) across different geographical regions to inform the design and testing of therapeutics, and SNVs that may impact the sensitivity of commonly used diagnostic primers.
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
- S. Greenway, R. McLeod, B. Gerull
- Biology, MedicineCanadian Journal of Cardiology
- 1 February 2014
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