List of works - Tyler Mark Pierson

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

scientific article published on 29 August 2015

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration ⬇️

scientific article published on December 7, 2011

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM 1 -gangliosidosis ⬇️

scientific article published on June 6, 2012

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

scientific article published on 17 January 2020

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

scientific article published on 23 February 2017

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase ⬇️

scientific article published on November 2, 2012

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

scientific article published on 30 January 2020

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) ⬇️

scientific article published on March 1, 2013

Novel pathogenic variants causing dysarthria, ataxia, and sensory neuropathy

scientific article published on 09 November 2018

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Positive and negative regulation of gene expression in eukaryotic cells with an inducible transcriptional regulator ⬇️

scientific article published on May 1, 1997

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

scientific article published on 24 April 2019

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases ⬇️

scientific article published on September 26, 2011

The NuRD complex and macrocephaly associated neurodevelopmental disorders

scientific article published on 18 November 2019

Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: A 5-year follow-up in three affected siblings ⬇️

scientific article published on October 28, 2010

mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

scientific article published on 14 August 2018

List of works by Tyler Mark Pierson