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1
The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas

von Booth, Mary E. ; Wood, Henry M. ; Travis, Mark A. ; et al.

Gastric Cancer. 28(3):358-371
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2
Adaptation pathways identify effective strategies for mitigating damage on a developed barrier island as sea levels rise

von Stephanie M. Patch ; Renee C. Collini ; Bailey R. Delaney ; et al.

Frontiers in Ecology and Evolution, Vol 13 (2026)

Schlagworte: XBeach; inundation; morphological change; community engagement; Dauphin Island; Hurricane Nate; Evolution; QH359-425; Ecology; QH540-549.5
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3
ImmuneLENS characterizes systemic immune dysregulation in aging and cancer

von Bentham, Robert ; Jones, Thomas P. ; Black, James R. M. ; et al.

Nature Genetics. 57(3):694-705
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4
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5
Origins and impact of extrachromosomal DNA

von Bailey, Chris ; Pich, Oriol ; Thol, Kerstin ; et al.

Nature: International weekly journal of science. 635(8037):193-200
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6
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

von Elhassan E. A. E. ; Collins K. E. ; Heneghan S. ; et al.

Schlagworte: ADPKD; Disease severity; Genetic burden; PKD; Prognosis
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7
Higher dose corticosteroids in hospitalised COVID-19 patients requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trialResearch in context

von O. Abani ; A. Abbas ; F. Abbas ; et al.

EClinicalMedicine, Vol 81, Iss , Pp 103080- (2025)

Schlagworte: COVID-19; Corticosteroid; Dexamethasone; Mortality; Clinical trial; Medicine (General); R5-920
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8
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

von Borras, Silvia ; Clark, Caroline ; Dean, John ; et al.

In Genetics in Medicine February 2024 26(2)
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9
Examining acquired brain injury-associated symptoms and fluid-based biomarkers in females surviving intimate partner violence: An observational pilot study protocol

von Michelle Patch ; Allison Jacobi-Dorbeck ; Tamar Rodney ; et al.

Women's Health, Vol 21 (2025)

Schlagworte: Medicine
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10
Genomic findings with familial implications: agenda setting in light of mainstreaming

von Phillips, A ; Van Steijvoort, E ; Siermann, M ; et al.
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11
Age and Sex Differences in the Genetics of Cardiomyopathy

von Akinrinade, Oyediran ; Lesurf, Robert ; Lougheed, Jane ; et al.

Journal of Cardiovascular Translational Research. 16(6):1287-1302
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12
Prevalence and significance of DDX41 gene variants in the general population

von Ambrose, J. C. ; Arumugam, P. ; Bevers, R. ; et al.

In Blood 5 October 2023 142(14):1185-1192
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13
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

von Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; et al.

In Genetics in Medicine April 2024 26(4)
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14
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

von Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; et al.

In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
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15
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

von Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; et al.

In Human Genetics and Genomics Advances 13 April 2023 4(2)
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16
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

von Ambrose, J.C. ; Arumugam, P. ; Baple, E.L. ; et al.

In Genetics in Medicine January 2023 25(1):76-89
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17
Accurate Detection of scutellata‐Hybrids (Africanized Bees) Using a SNP‐Based Diagnostic Assay

von Kathleen A. Dogantzis ; Harshilkumar Patel ; Stephen Rose ; et al.

Ecology and Evolution, Vol 14, Iss 11, Pp n/a-n/a (2024)

Schlagworte: Africanized honey bee; Apis mellifera; biomonitoring; classification; machine learning; Ecology; QH540-549.5
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18
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

von Ambrose, J.C. ; Baple, E.L. ; Bleda, M. ; et al.

In Genetics in Medicine May 2022 24(5):1073-1084
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19
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

von Seaby, Eleanor G. ; Thomas, N. Simon ; Webb, Amy ; et al.

Human Genetics. 142(3):351-362
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20
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

von Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian ; et al.

Nature Communications. 14(1)
- Zum Volltext in PubMed Central
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21
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

von Leggatt, Gary ; Cheng, Guo ; Narain, Sumit ; et al.

Scientific Reports. 13(1)
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22
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

von Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba ; et al.

ISSN: 0006-8950.

Schlagworte: ataxia; TUBA4A; spasticity; de novo; tubulinopathy; cerebellar atrophy; [SDV]Life Sciences [q-bio]
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23
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

von Eric Olinger ; Ian J. Wilson ; Sarah Orr ; et al.

Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)

Schlagworte: CNV analysis; Genome sequencing; NPHP1; Retinopathy; SLC66A1; Genetics; QH426-470; Medicine
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24
A novel likely pathogenic CLCN5 variant in Dent’s disease

von Hayward, S ; Norton, J ; Bownass, L ; et al.

BMC Nephrology. 24(1)
- Zum Volltext in PubMed Central
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25
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

von Sanjaya, Prima ; Maljanen, Katri ; Katainen, Riku ; et al.

Genome Medicine. 15(1)
- Zum Volltext in PubMed Central
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