Peter Lunt
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View article: Dynamic X-chromosomal reactivation enhances female brain resilience
Dynamic X-chromosomal reactivation enhances female brain resilience Open
Summary While random X-chromosome inactivation in female cells of placental mammalians silences one allele of the majority of X-chromosomal genes, a considerable fraction is only incompletely and variably inactivated resulting in a tissue-…
View article: Field And Well Evidence For Major Unconformities In North Sarawak, Compared To Southwest Sabah, Malaysia
Field And Well Evidence For Major Unconformities In North Sarawak, Compared To Southwest Sabah, Malaysia Open
A review of biostratigraphic and lithofacies data is used to show that there is no major unconformity in the stratigraphic record of north Sarawak or southwest Sabah near the end of the Early Miocene (approximately 17-15 Ma). The existence…
View article: A history of the latest and Neogene unconformities, offshore Palawan and the southern South China Sea
A history of the latest and Neogene unconformities, offshore Palawan and the southern South China Sea Open
View article: <i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Open
Background Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders. Objective T…
View article: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis Open
View article: The Eocene−Oligocene transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
The Eocene−Oligocene transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
The Nanggulan section in south central Java comprises open marine sediments and volcanic deposits of Eocene–Oligocene age that accumulated in a marginal basin within the young Sunda Arc complex. A new borehole captures the stratigraphy and…
View article: Supplementary Table. 4. NKK-1 EOT planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
Supplementary Table. 4. NKK-1 EOT planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 4. Planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data from the NKK-1 EOT sequence. The lithology is silty clay and claystone throughout. Data points excluded from the general dow…
View article: <b>Supplementary Table. 3</b>. NKK-1 borehole planktonic vs. benthic foraminifera counts and taxonomic notes. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
<b>Supplementary Table. 3</b>. NKK-1 borehole planktonic vs. benthic foraminifera counts and taxonomic notes. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 3. NKK1 borehole planktonic versus benthic foraminifera range semiquantitative counts and benthic foraminifera taxonomic notes.
View article: Supplementary Table. 2. NKK-1 borehole planktonic foraminifera species range chart. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
Supplementary Table. 2. NKK-1 borehole planktonic foraminifera species range chart. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 2. NKK1 borehole planktonic foraminifera range chart and biozone assignments. Assemblages were analysed to species level based on examination of the >150 µm and 63-150 µm sieve. Relative abundance categories: abu…
View article: <b>Supplementary Table. 1</b>. Coring summary for the NKK1 borehole. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
<b>Supplementary Table. 1</b>. Coring summary for the NKK1 borehole. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 1. Coring summary for the NKK1 borehole, Kali Kunir, Nanggulan, Java, Indonesia. GPS: Lat. 07.73844°S; Long. 110.18574°E. mbs, metres below surface.
View article: Supplementary Table. 3. NKK-1 borehole planktonic vs. benthic foraminifera counts and taxonomic notes. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
Supplementary Table. 3. NKK-1 borehole planktonic vs. benthic foraminifera counts and taxonomic notes. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 3. NKK1 borehole planktonic versus benthic foraminifera range semiquantitative counts and benthic foraminifera taxonomic notes.
View article: <b>Supplementary Table. 2</b>. NKK-1 borehole planktonic foraminifera species range chart. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
<b>Supplementary Table. 2</b>. NKK-1 borehole planktonic foraminifera species range chart. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 2. NKK1 borehole planktonic foraminifera range chart and biozone assignments. Assemblages were analysed to species level based on examination of the >150 µm and 63-150 µm sieve. Relative abundance categories: abu…
View article: <b>Supplementary Table. 4</b>. NKK-1 EOT planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
<b>Supplementary Table. 4</b>. NKK-1 EOT planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 4. Planktonic and benthic planktonic foraminifera oxygen and carbon stable isotope data from the NKK-1 EOT sequence. The lithology is silty clay and claystone throughout. Data points excluded from the general dow…
View article: Supplementary Table. 1. Coring summary for the NKK1 borehole. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes
Supplementary Table. 1. Coring summary for the NKK1 borehole. The Eocene–Oligocene Transition in Nanggulan, Java: lithostratigraphy, biostratigraphy and foraminiferal stable isotopes Open
Supplementary Table 1. Coring summary for the NKK1 borehole, Kali Kunir, Nanggulan, Java, Indonesia. GPS: Lat. 07.73844°S; Long. 110.18574°E. mbs, metres below surface.
View article: A reappraisal of the Cenozoic stratigraphy of the Malay and West Natuna Basins
A reappraisal of the Cenozoic stratigraphy of the Malay and West Natuna Basins Open
This review emphasizes that much geological data has a context, and properties of quality (reliability, precision) that are sometimes overlooked. A review of a pair of wells is e-appraised to examine the lithostratigraphic formations and s…
View article: Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages Open
This Article was originally published under Nature Research’s License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.
View article: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages Open
View article: Onshore to offshore correlation of northern Borneo; a regional perspective
Onshore to offshore correlation of northern Borneo; a regional perspective Open
View article: Onshore to offshore correlation of northern Borneo; a regional perspective
Onshore to offshore correlation of northern Borneo; a regional perspective Open
View article: A review of the Sarawak Cycles: History and modern application
A review of the Sarawak Cycles: History and modern application Open
View article: Implementing genetic education in primary care: the Gen-Equip programme
Implementing genetic education in primary care: the Gen-Equip programme Open
View article: A systematic review of interventions to provide genetics education for primary care
A systematic review of interventions to provide genetics education for primary care Open
There are insufficient studies of relevant quality to inform educational interventions in genetics for primary care practitioners. Educational initiatives should be assessed using changes in practice, as well as in confidence and knowledge…
View article: Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry Open
View article: Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability Open
Our results demonstrate that targeted gene panel testing is an unbiased approach which overcomes the limitations imposed by limited existing knowledge for rare genes, reveals high heterogeneity, and provides high diagnostic yield. It is th…
View article: Additional file 1: Table S1. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Additional file 1: Table S1. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability Open
Clearly Pathogenic Variants (Class 5) (XLSX 18Â kb)
View article: Additional file 3: Table S3. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Additional file 3: Table S3. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability Open
Variants of Unknown Clinical Significance (Class 3)Â (XLSX 33Â kb)
View article: Additional file 2: Table S2. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Additional file 2: Table S2. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability Open
Likely Pathogenic Variants (Class 4) (XLSX 20Â kb)