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488. SARS-CoV-2 Preparedness among Community Hospitals in Southeastern United States

Open forum infectious diseases, 2020-12, Vol.7 (Supplement_1), p.S310-S310

2020

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93. Early Recognition and Response to Increases in Surgical Site Infections (SSI) using Optimized Statistical Process Control (SPC) Charts – the Early 2RIS Trial: A Multicenter Stepped Wedge Cluster Randomized Controlled Trial (RCT)

Open forum infectious diseases, 2021-12, Vol.8 (Supplement_1), p.S59-S60

2021

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Mutational signature in colorectal cancer caused by genotoxic pks + E. coli

Nature (London), 2020-04, Vol.580 (7802), p.269-273

2020

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Compositional flexibility in Li-N-H materials: implications for ammonia catalysis and hydrogen storage

Physical chemistry chemical physics : PCCP, 2021-07, Vol.23 (28), p.1591-151

2021

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Mechanistic correlates of clinical responses to omalizumab in the setting of oral immunotherapy for milk allergy

Journal of allergy and clinical immunology, 2017-10, Vol.140 (4), p.1043-1053.e8

2017

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607

2021

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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

The European respiratory journal, 2022-11, Vol.60 (5), p.2200176

2022

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5060-5069

2023

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Knowledge gaps in the construction of rural healthy homes: A research agenda for improved low-cost housing in hot-humid Africa

PLoS medicine, 2019-10, Vol.16 (10), p.e1002909-e1002909

2019

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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

British journal of cancer, 2022-07, Vol.127 (1), p.137-144

2022

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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6591)

2022

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324

2022

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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Human genetics, 2023-03, Vol.142 (3), p.351-362

2023

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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051

2020

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Assessing the digenic model in rare disorders using population sequencing data

European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1439-1443

2022

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Genetics in medicine, 2021-02, Vol.23 (2), p.408-414

2021

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595

2022

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Prioritising indoor air quality in building design can mitigate future airborne viral outbreaks

Cities & health, 2021-07, Vol.5 (sup1), p.S162-S165

2021

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109

2023

Volltextzugriff (PDF)

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Scientific reports, 2023-06, Vol.13 (1), p.9369-12, Article 9369

2023

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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome

Scientific reports, 2022-02, Vol.12 (1), p.2722-13, Article 2722

2022

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.265-270

2022

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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

Scientific reports, 2022-07, Vol.12 (1), p.11257-11257, Article 11257

2022

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488. SARS-CoV-2 Preparedness among Community Hospitals in Southeastern United States

93. Early Recognition and Response to Increases in Surgical Site Infections (SSI) using Optimized Statistical Process Control (SPC) Charts – the Early 2RIS Trial: A Multicenter Stepped Wedge Cluster Randomized Controlled Trial (RCT)

Mutational signature in colorectal cancer caused by genotoxic pks + E. coli

Compositional flexibility in Li-N-H materials: implications for ammonia catalysis and hydrogen storage

Mechanistic correlates of clinical responses to omalizumab in the setting of oral immunotherapy for milk allergy

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Knowledge gaps in the construction of rural healthy homes: A research agenda for improved low-cost housing in hot-humid Africa

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Omalizumab for the Treatment of Multiple Food Allergies

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Assessing the digenic model in rare disorders using population sequencing data

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Prioritising indoor air quality in building design can mitigate future airborne viral outbreaks

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

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