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Publications

Explore our range of publications, from published scientific papers to industry articles and thought leadership.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

European Journal of Human Genetics, 2020

Early-onset cerebellar ataxia in a patient with CMT2A2

Molecular Case Studies, 2020

Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

BMC Medical Genetics, 2020

ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Human Mutation, 2020

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice

Ultrasound Obstet Gynecol, 2019

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

npj Genomic Medicine, 2019

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