Jonathan Pevsner
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View article: A novel somatic mutation in<i>GNB2</i>provides new insights to the pathogenesis of Sturge–Weber syndrome
A novel somatic mutation in<i>GNB2</i>provides new insights to the pathogenesis of Sturge–Weber syndrome Open
Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a dise…
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: The case for open science: rare diseases
The case for open science: rare diseases Open
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. …
View article: Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission Open
CSDE1 disruptive mutations are associated with autism.
View article: O2.3. INCREASED PROTEIN INSOLUBILITY IN BRAINS FROM A SUBSET OF PATIENTS WITH SCHIZOPHRENIA
O2.3. INCREASED PROTEIN INSOLUBILITY IN BRAINS FROM A SUBSET OF PATIENTS WITH SCHIZOPHRENIA Open
The mechanisms leading to schizophrenia are likely to be diverse. However, there may be common pathophysiological pathways for subsets of the disease. In the present study, we hypothesized that disruption of protein quality control can lea…
View article: Long-read single-molecule maps of the functional methylome
Long-read single-molecule maps of the functional methylome Open
We report on the development of a methylation analysis workflow for optical detection of fluorescent methylation profiles along chromosomal DNA molecules. In combination with Bionano Genomics genome mapping technology, these profiles provi…
View article: gVCF_NA12234
gVCF_NA12234 Open
1000 Genomes gVCF mapped to hs37d5 for NA12234. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_HG03457
gVCF_HG03457 Open
1000 Genomes gVCF mapped to hs37d5 for HG03457. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_NA19649
gVCF_NA19649 Open
1000 Genomes gVCF mapped to hs37d5 for NA19649. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_HG03874
gVCF_HG03874 Open
1000 Genomes gVCF mapped to hs37d5 for HG03874. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_NA19780
gVCF_NA19780 Open
1000 Genomes gVCF mapped to hs37d5 for NA19780. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_HG02284
gVCF_HG02284 Open
1000 Genomes gVCF mapped to hs37d5 for HG02284. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_HG03754
gVCF_HG03754 Open
1000 Genomes gVCF mapped to hs37d5 for HG03754. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_HG03672
gVCF_HG03672 Open
1000 Genomes gVCF mapped to hs37d5 for HG03672. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
View article: gVCF_NA18944
gVCF_NA18944 Open
1000 Genomes gVCF mapped to hs37d5 for NA18944. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307