An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4

Genetic variation across the human olfactory receptor repertoire alters odor perception.

Proceedings of the National Academy of Sciences of the United States of America·2019

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Molecular psychiatry·2018

Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) are characterised by differential activation of ER stress pathways: focus on UPR target genes.

Cell stress & chaperones·2018

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Nature communications·2017

Cultural factors that affected the spatial and temporal epidemiology of kuru.

Royal Society open science·2017

Common variants in the chromosome 2p23 region containing the SLC30A3 (ZnT3) gene are associated with schizophrenia in female but not male individuals in a large collection of European samples.

Psychiatry research·2016

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Scaling temporal resolution from mice to humans: Challenges and innovations in preclinical imaging of translational models.

The Journal of physiology·2026

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

High levels of mitotic gene conversion are needed to effectively purge deleterious mutations in asexual organisms.

Genome biology and evolution·2026

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Frontiers in immunology·2026

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Journal of human immunity·2026

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026

Related Experiment Videos

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4

Related Concept Videos

Genetic variation across the human olfactory receptor repertoire alters odor perception.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) are characterised by differential activation of ER stress pathways: focus on UPR target genes.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Cultural factors that affected the spatial and temporal epidemiology of kuru.

Common variants in the chromosome 2p23 region containing the SLC30A3 (ZnT3) gene are associated with schizophrenia in female but not male individuals in a large collection of European samples.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Scaling temporal resolution from mice to humans: Challenges and innovations in preclinical imaging of translational models.

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

High levels of mitotic gene conversion are needed to effectively purge deleterious mutations in asexual organisms.

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

Related Experiment Videos

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4

Related Concept Videos

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