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Showing 51–79 of 79 results

Advanced filters: Author: Helen Firth Clear advanced filters

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Correction: Mindbench.ai: an actionable platform to evaluate the profile and performance of large language models in a mental healthcare context

Bridget Dwyer
Matthew Flathers
John Torous
Amendments and CorrectionsOpen Access02 Feb 2026
NPP—Digital Psychiatry and Neuroscience

Volume: 4, P: 1
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

LaDeana W. Hillier
Webb Miller
Richard K. Wilson
Research09 Dec 2004
Nature

Volume: 432, P: 695-716
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Emilie M. Wigdor
Kaitlin E. Samocha
Hilary C. Martin
ResearchOpen Access15 Apr 2024
Scientific Reports

Volume: 14, P: 1-11
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Matthew Hurles, David FitzPatrick and colleagues report the discovery of four novel Mendelian disorders based on their analysis of exome sequence data from 4,125 families with diverse rare developmental disorders. They present their analytical pipeline as a general strategy for the discovery of genetic causes of autosomal recessive disorders.

Nadia Akawi
Jeremy McRae
Matthew E Hurles
Research05 Oct 2015
Nature Genetics

Volume: 47, P: 1363-1369
A framework for an evidence-based gene list relevant to autism spectrum disorder

A curated list of genes that are relevant to autism spectrum disorder (ASD) would greatly benefit clinical genetic testing. This Roadmap discusses the need for an evidence-based framework for gene curation that is based on the level of information supporting a clinically relevant relationship between a given gene and ASD.

Christian P. Schaaf
Catalina Betancur
Jacob A. S. Vorstman
Reviews21 Apr 2020
Nature Reviews Genetics

Volume: 21, P: 367-376
Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Caroline F. Wright
Ruth Y. Eberhardt
Helen V. Firth
ResearchOpen Access05 Nov 2020
Genetics in Medicine

Volume: 23, P: 571-575
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp (https://panelapp.genomicsengland.co.uk), a publicly available knowledge base of curated virtual gene panels.

Antonio Rueda Martin
Eleanor Williams
Ellen M. McDonagh
Comments & Opinion01 Nov 2019
Nature Genetics

Volume: 51, P: 1560-1565
A global multiproxy database for temperature reconstructions of the Common Era

Julien Emile-Geay
Nicholas P. McKay
Jens Zinke
ResearchOpen Access11 Jul 2017
Scientific Data

Volume: 4, P: 1-33
Paediatric genomics: diagnosing rare disease in children

The emerging field of paediatric genomics has leveraged the power of next-generation sequencing technologies to improve the diagnostic rates of rare disease in children. This Review addresses key considerations for safe and effective implementation of genomics in the clinic.

Caroline F. Wright
David R. FitzPatrick
Helen V. Firth
Reviews05 Feb 2018
Nature Reviews Genetics

Volume: 19, P: 253-268
Mindbench.ai: an actionable platform to evaluate the profile and performance of large language models in a mental healthcare context

Bridget Dwyer
Matthew Flathers
John Torous
ResearchOpen Access14 Nov 2025
NPP—Digital Psychiatry and Neuroscience

Volume: 3, P: 1-11
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

Jamie Trotman
Ruth Armstrong
Patrick Tarpey
ResearchOpen Access22 Apr 2022
British Journal of Cancer

Volume: 127, P: 137-144
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
ResearchOpen Access25 Oct 2018
Genetics in Medicine

Volume: 21, P: 1308-1318
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio
Camille Sayou
Nicola Brunetti-Pierri
Research22 Jul 2020
Genetics in Medicine

Volume: 22, P: 1838-1850
Registered access: authorizing data access

Stephanie O. M. Dyke
Mikael Linden
Paul Flicek
ResearchOpen Access02 Aug 2018
European Journal of Human Genetics

Volume: 26, P: 1721-1731
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Jeroen Breckpot
Britt-Marie Anderlid
Koen Devriendt
Research06 May 2015
European Journal of Human Genetics

Volume: 24, P: 51-58
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen
Rolph Pfundt
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Anna Middleton
Katherine I Morley
Michael Parker
ResearchOpen Access29 Apr 2015
European Journal of Human Genetics

Volume: 24, P: 21-29
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Caroline F Wright
Jeremy F McRae
Helen V Firth
ResearchOpen Access11 Jan 2018
Genetics in Medicine

Volume: 20, P: 1216-1223
Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

Ben Lawrence
Cherie Blenkiron
Cristin Print
ResearchOpen Access20 Jul 2018
npj Genomic Medicine

Volume: 3, P: 1-12
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
ResearchOpen Access22 Jan 2018
Scientific Reports

Volume: 8, P: 1-17
Generation of ribosome imprinted polymers for sensitive detection of translational responses

Helen A. King
Hazim F. El-Sharif
André P. Gerber
ResearchOpen Access26 Jul 2017
Scientific Reports

Volume: 7, P: 1-14
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava
Jamie A. Love-Nichols
David T. Miller
Amendments and CorrectionsOpen Access29 Jul 2020
Genetics in Medicine

Volume: 22, P: 1731-1732
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette Piard
Lara Hawkes
Christophe Philippe
Amendments and CorrectionsOpen Access20 Feb 2019
Genetics in Medicine

Volume: 21, P: 1667-1671
Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Hemant Bengani
Mark Handley
David R. FitzPatrick
ResearchOpen Access02 Feb 2017
Genetics in Medicine

Volume: 19, P: 900-908
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava
Jamie A. Love-Nichols
David T. Miller
ReviewsOpen Access11 Jun 2019
Genetics in Medicine

Volume: 21, P: 2413-2421
Guidelines for molecular karyotyping in constitutional genetic diagnosis

Joris Robert Vermeesch
Heike Fiegler
Orsetta Zuffardi
Reviews18 Jul 2007
European Journal of Human Genetics

Volume: 15, P: 1105-1114
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery
Mike L. Smith
Andy G. Lynch
Amendments and CorrectionsOpen Access03 Sept 2018
Scientific Reports

Volume: 8, P: 1-4

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