Jeremy Thorpe
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View article: Mapping recurrent mosaic copy number variation in human neurons
Mapping recurrent mosaic copy number variation in human neurons Open
View article: Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases Open
View article: Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Author Correction: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia Open
View article: Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing Open
View article: Control-independent mosaic single nucleotide variant detection with DeepMosaic
Control-independent mosaic single nucleotide variant detection with DeepMosaic Open
View article: Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability Open
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable…
View article: Somatic mosaicism reveals clonal distributions of neocortical development
Somatic mosaicism reveals clonal distributions of neocortical development Open
View article: Comprehensive identification of somatic nucleotide variants in human brain tissue
Comprehensive identification of somatic nucleotide variants in human brain tissue Open
View article: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing Open
View article: Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia Open
View article: Additional file 4 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 4 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 4:. Table S6. List of primers and probes used in ddPCR validation experiments.
View article: Additional file 2 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 2 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 2:. Table S2. List of 400 candidate SNVs chosen for validation experiments.
View article: Additional file 3 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 3 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 3:. Table S5. List of amplicon sequencing primers used to validate the 400 candidate mosaic SNVs.
View article: Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury Open
Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injuriou…
View article: Comprehensive identification of somatic nucleotide variants in human brain tissue
Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variant…
View article: Mosaicism in Human Health and Disease
Mosaicism in Human Health and Disease Open
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. Somatic mosaicism is a postzygotic…
View article: Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome
Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome Open
View article: Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network Open
Single-cell diversity in the brain The cells that make up an organism may all start from one genome, but somatic mutations mean that somewhere along the line of development, an organism's individual cellular genomes diverge. McConnell et a…
View article: Reader domain specificity and lysine demethylase-4 family function
Reader domain specificity and lysine demethylase-4 family function Open
View article: Degree of Recruitment of DOT1L to MLL-AF9 Defines Level of H3K79 Di- and Tri-methylation on Target Genes and Transformation Potential
Degree of Recruitment of DOT1L to MLL-AF9 Defines Level of H3K79 Di- and Tri-methylation on Target Genes and Transformation Potential Open
View article: Intrinsic Disorder, Epigenetics, and Leukemia - the MLL-AF9 SAGA
Intrinsic Disorder, Epigenetics, and Leukemia - the MLL-AF9 SAGA Open