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Publications

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

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

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Human Mutation, 2019

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Whole-genome sequencing of rare disease patients in a national healthcare system

The Lancet, 2019

Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

Genetics in Medicine, 2018

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