Tyler Mark Pierson
YOU?
Author Swipe
View article: Compound Heterozygous <i>MRPS14</i> Variants Associated With Leigh Syndrome
Compound Heterozygous <i>MRPS14</i> Variants Associated With Leigh Syndrome Open
MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14 ‐related disorder (also known as COXPD38) has been reported. We report an addi…
View article: Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Open
View article: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor Open
View article: Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia Open
Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. CLN6 encodes a resident-ER protein involved in trafficking ly…
View article: Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning Open
GATAD2B (GATA zinc finger domain containing 2B) variants are associated with the neurodevelopmental syndrome GAND, characterized by intellectual disability (ID), infantile hypotonia, apraxia of speech, epilepsy, macrocephaly and distinct f…
View article: De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder Open
GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other processes. The NuRD complex modulates c…
View article: Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening Open
View article: A neurodevelopmental disorder associated with an activating<i>de novo</i>missense variant in<i>ARF1</i>
A neurodevelopmental disorder associated with an activating<i>de novo</i>missense variant in<i>ARF1</i> Open
ADP-ribosylation factor 1 (ARF1) is a small GTPase that regulates membrane traffic at the Golgi apparatus and endosomes through recruitment of several coat proteins and lipid-modifying enzymes. Here, we report a pediatric patient with an A…
View article: Familial <scp>Bainbridge‐Ropers</scp> syndrome: Report of familial <scp><i>ASXL3</i></scp> inheritance and a milder phenotype
Familial <span>Bainbridge‐Ropers</span> syndrome: Report of familial <span><i>ASXL3</i></span> inheritance and a milder phenotype Open
De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 ( ASXL3 ) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteri…
View article: Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Expanding the phenotype of <span><i>ASXL3</i></span>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <span><i>ASXL3</i></span> Open
The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detai…
View article: International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history
International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history Open
International audience
View article: International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy Open
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these condit…
View article: Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i>
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i> Open
SATB2 ‐Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have be…
View article: Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome Open
View article: Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder Open
View article: Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Open
View article: GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder Open
View article: Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel <i>MCT8</i> Variants
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel <i>MCT8</i> Variants Open
Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic thyroid function test (TFT) abnormalities. Two children with mild neurological p…
View article: Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy Open
View article: Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Open
View article: De novo and biallelic DEAF1 variants cause a phenotypic spectrum
De novo and biallelic DEAF1 variants cause a phenotypic spectrum Open
View article: Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation Open
Background Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m -AAA complexes involved in protein quality co…
View article: SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Open
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SL…
View article: Modeling rare pediatric neurogenetic disorders with IPSCs
Modeling rare pediatric neurogenetic disorders with IPSCs Open
Intensive research has been performed to identify the pathological mechanisms of many pediatric neurogenetic disorders and to identify potential therapeutic targets. Although research into many pediatric neurological disorders has provided…
View article: Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Open
View article: Novel pathogenic <i><scp>COX</scp>20</i> variants causing dysarthria, ataxia, and sensory neuropathy
Novel pathogenic <i><span>COX</span>20</i> variants causing dysarthria, ataxia, and sensory neuropathy Open
COX 20/ FAM 36A encodes a mitochondrial complex IV assembly factor important for COX 2 activation. Only one homozygous COX 20 missense mutation has been previously described in two separate consanguineous families. We report four subjects …
View article: <i>FARS2</i> mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
<i>FARS2</i> mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei Open
Mutations in FARS2 , the gene encoding the mitochondrial phenylalanine‐tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction. We report a 9‐year‐…
View article: The Stuttgart Process (Germany)
The Stuttgart Process (Germany) Open
Phosphorus has always been both a curse and a blessing. On the one hand, it is essential for all life forms and cannot be replaced by anything. On the other hand, wastewater treatment aims to minimize phosphorus concentrations in wastewate…
View article: TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes Open
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin …
View article: Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Open