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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal article

Ellingford JM. et al, (2022), Genome medicine, 14

Structure-based inhibitor optimization for the Nsp3 Macrodomain of SARS-CoV-2.

Journal article

Gahbauer S. et al, (2022), bioRxiv

The Bartter-Gitelman Spectrum: Fifty Year Follow-up with Revision of Diagnosis after Whole Genome Sequencing

Journal article

Stevenson M. et al, (2022), Journal of the Endocrine Society

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Journal article

Palles C. et al, (2022), American journal of human genetics

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants in whole-genome sequencing

Conference paper

Giacopuzzi E. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 496 - 496

SCUBE3 loss-of-function causes a recognizable developmental disorder due to defective bone morphogenetic protein (BMP) signaling

Conference paper

Niceta M. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 362 - 363

The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Conference paper

Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Journal article

Pagnamenta AT. et al, (2022), Clinical Genetics, 101, 127 - 133

Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome

Journal article

Ormerod JOM. et al, (2021), Circulation: Genomic and Precision Medicine

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Journal article

Baxley RM. et al, (2021), Nature Communications, 12

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal article

Pagnamenta AT. et al, (2021), Journal of Medical Genetics

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

Journal article

Smedley D. et al, (2021), New England Journal of Medicine, 385, 1868 - 1880

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Journal article

Hikmat O. et al, (2021), Annals of clinical and translational neurology

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Journal article

Marafi D. et al, (2021), Brain : a journal of neurology

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal article

Tan NB. et al, (2021), Journal of Medical Genetics

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