H. Firth

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

M. Hurles, P. Danecek, E. Gardner, 2020, medRxiv.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

M. Hurles, H. Firth, C. Semple, 2022, medRxiv.

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

I. Martincorena, E. Gardner, David John Adams, 2022, medRxiv.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

H. Firth, A. Fry, D. Pilz, 2017, Journal of Medical Genetics.

Optimising diagnostic yield in highly penetrant genomic disease

M. Hurles, P. Danecek, K. Samocha, 2022, medRxiv.

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

M. Hurles, D. Fitzpatrick, C. Wright, 2022, medRxiv.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Tomas W. Fitzgerald, M. Hurles, H. Firth, 2019, Nature Communications.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

J. Clayton-Smith, J. Hurst, L. Garavelli, 2005, Genetic counseling.

Baraitser–Winter cerebrofrontofacial syndrome

D. Pilz, D. Pilz, C. Turner, 2017, Clinical genetics.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Firth, M. Hurles, K. Samocha, 2023, medRxiv.

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.

H. Firth, H. Firth, R. Lindenbaum, 1992, Journal of medical genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Caroline F. Wright, Helen V. Firth, Jawahar Swaminathan, 2013, Nucleic Acids Res..

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.

H. Firth, R. Lindenbaum, 1992, Journal of medical genetics.

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

M. Hurles, K. Karczewski, P. Danecek, 2021, American journal of human genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Detection and characterisation of copy number variants from exome sequencing in the DDD study

P. Danecek, E. Gardner, C. Wright, 2023, medRxiv.

Deciphering the role of germline complex de novo structural variations in rare disorders

A. Scally, P. Danecek, R. Rahbari, 2024, bioRxiv.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.