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List of works by John B Vincent

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

scientific article published on 03 March 2020

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

scientific article published on 05 January 2021

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

scientific article published on 30 August 2019

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

scientific article published on 12 February 2018

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.

scientific article

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

scientific article published on 28 September 2020

Sequence Analysis of Drug Target Genes with Suicidal Behavior in Bipolar Disorder Patients

scientific article published on 03 May 2018

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

scientific article published in 2022

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