Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

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Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Clinical pharmacology and therapeutics·2015

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Translational psychiatry·2014

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Neuromuscular disorders : NMD·2013

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Age·2013

Using genetics to enable studies on the prevention of Alzheimer's disease.

Clinical pharmacology and therapeutics·2012

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

American journal of human genetics·2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

American journal of human genetics·2026

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

American journal of human genetics·2026

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

American journal of human genetics·2026

International experiences of genomic newborn screening: Lessons from over 10,800 newborns.

American journal of human genetics·2026

AES-Debye: an accurate, efficient and scalable engine for Debye scattering calculations.

Journal of applied crystallography·2026

DISCO: a general software tool for dislocation contrast factor calculations in diffraction analysis.

Journal of applied crystallography·2026

Probing electron transport and thermodynamic properties in expanded warm dense matter.

Nature communications·2026

Superconductivity in the Repulsive Hubbard Model on Different Geometries Induced by Density-Assisted Hopping.

Physical review letters·2026

Electron density structural torsion.

The Journal of chemical physics·2026

Data-driven calibration of atomic volumes for efficient prediction of material properties from chemical formula.

Physical chemistry chemical physics : PCCP·2026

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Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

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Clinician and staff perspectives on potential disparities introduced by the rapid implementation of telehealth services during COVID-19: a mixed-methods analysis.

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

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Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

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