F. Boardman-Pretty

Queen Mary University of London — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index3.2kcitations69works2.42yr avg
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Research Topics

Genomics and Rare Diseases(11), Cancer Genomics and Diagnostics(9), RNA Research and Splicing(6), Genomic variations and chromosomal abnormalities(6), RNA modifications and cancer(6)

Publications64 total

The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas
Gastric Cancer·2025· 3 citedOpen Access
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
Journal of Nephrology·2025Open Access
A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records
Orphanet Journal of Rare Diseases·2024Open Access
A Machine Learning Algorithm for the Detection of Paroxysmal Nocturnal Haemoglobinuria (PNH) in UK Primary Care Electronic Health Records
2024Open Access
Identifying patients with undiagnosed small intestinal neuroendocrine tumours in primary care using statistical and machine learning: model development and validation study
British Journal of Cancer·2024· 4 citedOpen Access
A Machine Learning Algorithm for the Detection of Paroxysmal Nocturnal Haemoglobinuria (PNH) in UK Primary Care Electronic Health Records
2024Open Access
The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case–Control Study
The Journal of Clinical Endocrinology & Metabolism·2024· 5 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Gastroenterology·2023· 6 citedOpen Access
A novel likely pathogenic CLCN5 variant in Dent’s disease
BMC Nephrology·2023· 3 citedOpen Access
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Kidney International·2023· 33 citedOpen Access
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics·2023· 18 citedOpen Access
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Brain·2023· 66 citedOpen Access
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications·2023· 21 citedOpen Access
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Genome Medicine·2023· 23 citedOpen Access
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
The American Journal of Human Genetics·2023· 39 citedOpen Access
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease
Kidney International·2023· 25 citedOpen Access
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· 7 citedOpen Access
The genomic landscape of familial glioma
Science Advances·2023· 44 citedOpen Access
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Brain·2023· 55 citedOpen Access
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Frequent Co-authors

D. Perez-Gil(45), Melis Kayikci(44), J. Pullinger(44), Marta Bleda(43), Tim Hubbard(43), Loukas Moutsianas(43), Nirupa Murugaesu(43), Angela Hamblin(42), Anna C. Need(42), T. Rahim(41), Dalia Kasperavičiūtė(41), S. E. A. Leigh(40), F. Maleady-Crowe(40), Christine Patch(40), Alona Sosinsky(40), John C. Ambrose(40), C. R. Boustred(40), Helen Brittain(40), Mark J. Caulfield(40), L. Lahnstein(39)