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H. Firth · SciRah

Researcher profile · Semantic Scholar

H. Firth

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H. Firth — researcher profile on SciRah

h-index: 60
Works: 340
Citations: 18K

Most-cited papers

A cellular census of human lungs identifies novel cell states in health and in asthma
F. V. Vieira Braga, G. Kar, M. Berg, O. Carpaij +31 more
2019Nature Medicine778 citations Open access
Semantic Scholar
The Human Phenotype Ontology in 2017
S. Köhler, N. Vasilevsky, M. Engelstad, Erin Foster +55 more
2016Nucleic Acids Res.748 citations Open access
Semantic Scholar
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S. Srivastava, Jamie A. Love-Nichols, K. Dies, D. Ledbetter +11 more
2019Genetics in Medicine598 citations Open access
Semantic Scholar
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J. Kaplanis, K. Samocha, Laurens Wiel, Zhancheng Zhang +28 more
2020Nature571 citations Open access
Semantic Scholar
Paediatric genomics: diagnosing rare disease in children
C. Wright, D. Fitzpatrick, H. Firth
2018Nature reviews genetics529 citations
Semantic Scholar
GA4GH: International policies and standards for data sharing across genomic research and healthcare
H. Rehm, A. Page, Lindsay D. Smith, Jeremy B. Adams +198 more
2021Cell Genomics306 citations Open access
Semantic Scholar
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders
C. Wright, J. McRae, Stephen Clayton, G. Gallone +13 more
2018Genetics in Medicine306 citations Open access
Semantic Scholar
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
M. Niemi, H. Martin, D. Rice, G. Gallone +13 more
2018Nature296 citations Open access
Semantic Scholar
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E. French, I. Delon, H. Dolling, A. Sanchis-Juan +76 more
2019Intensive Care Medicine266 citations Open access
Semantic Scholar
De novo mutations in regulatory elements in neurodevelopmental disorders
Patrick J. Short, J. McRae, G. Gallone, A. Sifrim +7 more
2018Nature238 citations Open access
Semantic Scholar
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
R. Toledo, N. Burnichon, A. Cascón, Diana E. Benn +14 more
2017Nature Reviews Endocrinology225 citations Open access
Semantic Scholar
Quantifying the contribution of recessive coding variation to developmental disorders
H. Martin, W. Jones, R. McIntyre, G. Sanchez-Andrade +35 more
2017Science192 citations Open access
Semantic Scholar
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
A. Middleton, K. Morley, E. Bragin, H. Firth +3 more
2015European Journal of Human Genetics192 citations Open access
Semantic Scholar
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
N. Akawi, J. McRae, Morad Ansari, M. Balasubramanian +38 more
2015Nature Genetics155 citations Open access
Semantic Scholar
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T. DiStefano, Scott Goehringer, L. Babb, F. Alkuraya +42 more
2022medRxiv149 citations Open access
Semantic Scholar
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
D. Koolen, R. Pfundt, K. Linda, G. Beunders +45 more
2015European Journal of Human Genetics143 citations Open access
Semantic Scholar
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
A. Thormann, M. Halachev, W. McLaren, D. Moore +11 more
2019Nature Communications138 citations Open access
Semantic Scholar
Recommendations for whole genome sequencing in diagnostics for rare diseases
E. Souche, S. Beltrán, E. Brosens, J. Belmont +27 more
2022European Journal of Human Genetics133 citations Open access
Semantic Scholar
A human embryonic limb cell atlas resolved in space and time
Bao Zhang, Peng He, J. E. Lawrence, Shuai-Yu Wang +29 more
2023bioRxiv126 citations Open access
Semantic Scholar
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
D. Grozeva, K. Carss, O. Spasic-Boskovic, M. Parker +11 more
2014American Journal of Human Genetics117 citations Open access
Semantic Scholar
A framework for an evidence-based gene list relevant to autism spectrum disorder
C. Schaaf, C. Betancur, Ryan K. C. Yuen, J. Parr +21 more
2020Nature reviews genetics116 citations Open access
Semantic Scholar
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
M. Cousin, Blake A. Creighton, Keith A. Breau, R. Spillmann +70 more
2021Nature Genetics94 citations Open access
Semantic Scholar
Genetic and chemotherapeutic influences on germline hypermutation
J. Kaplanis, Benjamin Ide, R. Sanghvi, M. Neville +14 more
2022Nature87 citations Open access
Semantic Scholar
Pathogenicity and selective constraint on variation near splice sites
J. Lord, G. Gallone, Patrick J. Short, J. McRae +24 more
2018bioRxiv85 citations Open access
Semantic Scholar
Paediatric genomics: diagnosing rare disease in children
C. Wright, D. Fitzpatrick, H. Firth
2018Nature reviews genetics78 citations Open access
Semantic Scholar
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
A. Habel, R. Herriot, D. Kumararatne, J. Allgrove +12 more
2014European Journal of Pediatrics78 citations Open access
Semantic Scholar
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
C. Wright, E. Prigmore, D. Rajan, J. Handsaker +6 more
2019Nature Communications76 citations Open access
Semantic Scholar
The contribution of X-linked coding variation to severe developmental disorders
H. Martin, E. Gardner, K. Samocha, J. Kaplanis +12 more
2020Nature Communications62 citations Open access
Semantic Scholar
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Hemant Bengani, Mark T. Handley, M. Alvi, R. Ibitoye +29 more
2017Genetics in Medicine60 citations Open access
Semantic Scholar
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
J. Piard, L. Hawkes, M. Milh, L. Villard +26 more
2018Genetics in Medicine58 citations Open access
Semantic Scholar
Contribution of retrotransposition to developmental disorders
E. Gardner, E. Prigmore, G. Gallone, P. Danecek +15 more
2018Nature Communications53 citations Open access
Semantic Scholar
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
D. Josifova, G. Monroe, F. Tessadori, E. de Graaff +14 more
2016Human Molecular Genetics52 citations Open access
Semantic Scholar
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
J. Kaplanis, K. Samocha, Laurens Wiel, Zhancheng Zhang +29 more
2019bioRxiv51 citations Open access
Semantic Scholar
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
A. Spurdle, S. Greville-Heygate, A. Antoniou, Melissa A. Brown +17 more
2019Journal of Medical Genetics50 citations Open access
Semantic Scholar
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
G. Cappuccio, C. Sayou, Pauline Le Tanno, É. Tisserant +43 more
2020Genetics in Medicine48 citations Open access
Semantic Scholar
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Lot Snijders Blok, T. Kleefstra, H. Venselaar, S. Maas +34 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
J. Kaplanis, N. Akawi, G. Gallone, J. McRae +6 more
2019Genome Research45 citations Open access
Semantic Scholar
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
M. Hamilton, R. Caswell, N. Canham, T. Cole +20 more
2017Journal of Medical Genetics43 citations Open access
Semantic Scholar
Annual Review of Genomics and Human Genetics: DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
J. Foreman, D. Perrett, Erica Mazaika, S. Hunt +2 more
2023Annual review of genomics and human genetics (Print)42 citations Open access
Semantic Scholar
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
Eleni A. Chatzimichali, S. Brent, Ben Hutton, D. Perrett +5 more
2015Human Mutation42 citations Open access
Semantic Scholar
Registered access: authorizing data access
Stephanie O. M. Dyke, Mikael Linden, I. Lappalainen, Jordi Rambla De Argila +43 more
2018European Journal of Human Genetics41 citations Open access
Semantic Scholar
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
J. Trotman, R. Armstrong, H. Firth, C. Trayers +65 more
2022British Journal of Cancer40 citations Open access
Semantic Scholar
Loss of transient receptor potential channel 5 causes obesity and postpartum depression
Yong-Xiang Li, T. Cacciottolo, Na Yin, Yang He +31 more
2024Cell39 citations Open access
Semantic Scholar
Potential research participants support the return of raw sequence data
A. Middleton, C. Wright, K. Morley, E. Bragin +3 more
2015Journal of Medical Genetics39 citations Open access
Semantic Scholar
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
J. Foreman, S. Brent, D. Perrett, A. P. Bevan +4 more
2021Human Mutation34 citations Open access
Semantic Scholar
Principle of proportionality in genomic data sharing
C. Wright, M. Hurles, H. Firth
2015Nature reviews genetics32 citations
Semantic Scholar
Genomic variant sharing: a position statement
C. Wright, J. Ware, A. Lucassen, A. Hall +4 more
2019Wellcome Open Research29 citations Open access
Semantic Scholar
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease
R. Hanssen, C. Auwerx, Maarja Jõeloo, M. Sadler +9 more
2023Cell Reports Medicine28 citations Open access
Semantic Scholar
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity
Zheng-Zheng S. Liang, Irene Cimino, Binnaz Yalcin, N. Raghupathy +11 more
2020PLoS Genetics27 citations Open access
Semantic Scholar
Evaluating variants classified as pathogenic in ClinVar in the DDD Study
C. Wright, R. Eberhardt, Panayiotis Constantinou, M. Hurles +2 more
2020Genetics in Medicine25 citations Open access
Semantic Scholar

Frequent co-authors

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M. Hurles×22
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M. Hurles — researcher profile on SciRah
C. Wright×20
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D. Fitzpatrick×17
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J. McRae×13
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G. Gallone — researcher profile on SciRah

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J. Barrett — researcher profile on SciRah

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Patrick J. Short — researcher profile on SciRah

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A. Sifrim — researcher profile on SciRah

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H. Martin — researcher profile on SciRah

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J. Lord — researcher profile on SciRah

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E. Prigmore — researcher profile on SciRah