Stephen P. Robertson
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View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand
Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand Open
The Rakeiora program was designed for high impact precision health research in Aotearoa New Zealand. It required a genomics platform to facilitate linkage of whole genome DNA sequencing data, healthcare records, and mātauranga whakapapa (g…
View article: Neuronal hyperactivity in neurons derived from individuals with gray matter heterotopia
Neuronal hyperactivity in neurons derived from individuals with gray matter heterotopia Open
Periventricular heterotopia (PH), a common form of gray matter heterotopia associated with developmental delay and drug-resistant seizures, poses a challenge in understanding its neurophysiological basis. Human cerebral organoids (hCOs) de…
View article: Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant
Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant Open
This report presents a male patient with frontometaphyseal dysplasia (FMD) caused by a previously reported FLNA variant (NM_001456.4:c.4726G>A (p.Gly1576Arg)) that was maternally inherited. This finding directly contrasts with two previous…
View article: Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1
Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1 Open
Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects. To date, pathogenic variants in only one gene, MNX1, have be…
View article: Further delineation of the SCAF4-associated neurodevelopmental disorder
Further delineation of the SCAF4-associated neurodevelopmental disorder Open
View article: Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Open
View article: Idiopathic juvenile osteoporosis—a polygenic disorder?
Idiopathic juvenile osteoporosis—a polygenic disorder? Open
Idiopathic juvenile osteoporosis (IJO) is a rare condition presenting with vertebral and metaphyseal fractures that affects otherwise healthy prepubertal children. Bone mineral density (BMD) measurements are very low. The primary problem a…
View article: Neuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter Heterotopia
Neuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter Heterotopia Open
Periventricular heterotopia (PH), a common form of grey matter heterotopia associated with developmental delay and drug-resistant seizures, poses a challenge in understanding its neurophysiological basis. Human cerebral organoids (hCOs) de…
View article: Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population Open
View article: TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development Open
Summary Transforming Growth Factor-Beta-Activated Kinase 1 (TAK1/MAP3K7), along with its upstream regulators TAK1-Binding Protein 2 (TAB2) and the catalytic alpha-subunit of Protein Kinase A (PKA-Cα/PRKACA), has been identified as a pivota…
View article: Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase Open
View article: Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 Open
View article: Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia
Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia Open
Periventricular neuronal heterotopia (PH) is one of the most common forms of cortical malformation in the human cortex. We show that human neuronal progenitor cells (hNPCs) derived from PH patients with a DCHS1 or FAT4 mutation as well as …
View article: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Open
Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and …
View article: The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2
The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2 Open
KEYWORDS: Childrentamariki, adolescentsrangatahiyouthhealthhauoramental healthwellbeingnutritionhealth equityoral health, Kaupapa Māoriindigenous
View article: FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function Open
Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that und…
View article: Nosology of genetic skeletal disorders: 2023 revision
Nosology of genetic skeletal disorders: 2023 revision Open
The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technolo…
View article: Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome Open
The recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation.
View article: Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Open
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been ap…
View article: The current and future state of child health and wellbeing in Aotearoa New Zealand: part 1
The current and future state of child health and wellbeing in Aotearoa New Zealand: part 1 Open
View article: Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model Open
View article: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Open
View article: Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features Open
View article: <i>FLNA</i>-Filaminopathy Skeletal Phenotypes are Not Due to an Osteoblast Autonomous Loss-of-Function
<i>FLNA</i>-Filaminopathy Skeletal Phenotypes are Not Due to an Osteoblast Autonomous Loss-of-Function Open
View article: Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Open
View article: Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity Open
View article: Does brittle cornea syndrome have a bone fragility phenotype?
Does brittle cornea syndrome have a bone fragility phenotype? Open
View article: Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel <scp><i>FLNA</i></scp> variant
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel <span><i>FLNA</i></span> variant Open
Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X‐linked filaminopathies caused by a variety of FLNA ‐variants. TODPD is characterized by skeletal defects, skin fibromata a…
View article: Integrated in silico and experimental assessment of disease relevance of <i>PCDH19</i> missense variants
Integrated in silico and experimental assessment of disease relevance of <i>PCDH19</i> missense variants Open
PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants in PCDH19 cause infantile-onset epilepsy known as PCDH19-clustering epilepsy or PCDH19-CE. R…