Nature Search

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer
Amendments and CorrectionsOpen Access01 Apr 2020
Genetics in Medicine

Volume: 22, P: 1129
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Phenome-wide analysis in the UK Biobank identifies GC-rich tandem repeat expansions associated with a range of traits, including a GCC expansion in AFF3 contributing to intellectual disability.

Bharati Jadhav
Paras Garg
Andrew J. Sharp
Research23 Sept 2024
Nature Genetics

Volume: 56, P: 2322-2332
27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Raul E. Piña-Aguilar
Sheila A. Simpson
Zosia Miedzybrodzka
Research14 Dec 2018
Genetics in Medicine

Volume: 21, P: 1639-1643
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

Huntington disease (HD) is an incurable neurodegenerative disease. A SNP in the huntingtin promoter impaired NF-κB binding and acted as a bidirectional modifier of disease onset. Presence of the SNP on the mutant allele associated with delayed age of onset, while the SNP on the wild-type HTT allele associated with accelerated age of onset. These findings have direct therapeutic implications.

Kristina Bečanović
Anne Nørremølle
Blair R Leavitt
Research04 May 2015
Nature Neuroscience

Volume: 18, P: 807-816
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

Julia Volpi
Xiaonan Zhao
Daryl A. Scott
ResearchOpen Access12 Aug 2025
European Journal of Human Genetics

P: 1-7
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai
Jenny Lord
L. Archer
ResearchOpen Access03 Mar 2020
Genetics in Medicine

Volume: 22, P: 1005-1014
The contribution of X-linked coding variation to severe developmental disorders

Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

Hilary C. Martin
Eugene J. Gardner
Matthew E. Hurles
ResearchOpen Access27 Jan 2021
Nature Communications

Volume: 12, P: 1-13
Evidence for 28 genetic disorders discovered by combining healthcare and research data

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

Joanna Kaplanis
Kaitlin E. Samocha
Kyle Retterer
Research14 Oct 2020
Nature

Volume: 586, P: 757-762
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Claire Forde
Emma Burkitt-Wright
Meena Upadhyaya
ResearchOpen Access13 Dec 2021
European Journal of Human Genetics

Volume: 30, P: 291-297
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Peter Perrino et al. identify variants in USH2A linked to a dominant language disorder in a human family and find that these variants are also associated with low-frequency hearing at the population level. They investigate the function of USH2A variants in mice, showing that mutations in this gene are responsible for hearing loss.

Peter A. Perrino
Lidiya Talbot
Dianne F. Newbury
ResearchOpen Access20 Apr 2020
Communications Biology

Volume: 3, P: 1-14
De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Maria J. Nabais Sá
Philip J. Jensik
Anneke T. Vulto-vanSilfhout
Research29 Mar 2019
Genetics in Medicine

Volume: 21, P: 2059-2069
Predictive testing for Huntington’s disease in a digital age; patient power with potential pitfalls

Advances in digital healthcare impacts genetic counselling and testing for hereditary disorders, including Huntington’s Disease. The Danish Digital Health Strategy was implemented from 2018 but has recently announced an extension to include the automatic release of all results, including genomic laboratory reports. The European Huntington’s Disease Network (EHDN) Working Group for Genetic Counselling and Testing have reviewed the existing Recommendations for Predictive Testing in Huntington’s Disease and the literature concerning digital health records and make recommendations to maintain the integrity of genetic counselling practise.

V. Mocanu
SG Lindquist
N. Lahiri
Comments & OpinionOpen Access29 Jan 2025
European Journal of Human Genetics

Volume: 33, P: 695-698
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Cecilia Giunta
Matthias Baumann
Marianne Rohrbach
ResearchOpen Access15 Jun 2017
Genetics in Medicine

Volume: 20, P: 42-54
Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Muriel Holder-Espinasse
Aleksander Jamsheer
Sylvie Manouvrier-Hanu
Reviews08 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 525-534

Search

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

The contribution of X-linked coding variation to severe developmental disorders

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Predictive testing for Huntington’s disease in a digital age; patient power with potential pitfalls

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

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