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Author Details

John A Sayer
Translational and Clinical Research Institute, Newcastle University
2001
197
40
PMIDPaper TitleJournal TitlePublished Year
38016513Uromodulin processing in DNAJB11-kidney disease.Kidney Int2024
34519781Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.Nephrol Dial Transplant2023
37664187Many lessons still to learn about autosomal dominant polycystic kidney disease.J Rare Dis (Berlin)2023
37288276Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.J Rare Dis (Berlin)2023
37243567Renal ciliopathies: promising drug targets and prospects for clinical trials.Expert Opin Ther Targets2023
37207645Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.Am J Hum Genet2023
37438198Re: Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.Eur Urol2023
37204080Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.Mol Genet Genomic Med2023
36967423Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN Case Rep2023
37224330Case Report: Identification of likely recurrent <i>CEP290</i> mutation in a child with Joubert syndrome and cerebello-retinal-renal features.F1000Res2023
36993832Large renal angiomyolipomas in tuberous sclerosis.Oxf Med Case Reports2023
36571463OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.Genet Med2023
36371483Sphingosine phosphate lyase insufficiency syndrome: a systematic review.World J Pediatr2023
36273371Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Clin Genet2023
35134221An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.Nephrol Dial Transplant2022
37674994Outcomes from the Northeast England cohort of autosomal dominant polycystic kidney disease (ADPKD) patients on tolvaptan.Front Nephrol2022
35705349Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership.BMJ Open2022
35397207Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.Am J Hum Genet2022
36569465UMOD and you! Explaining a rare disease diagnosis.J Rare Dis (Berlin)2022
36177613Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.Hum Mutat2022
35896117Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.Am J Hum Genet2022
36292572Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.Genes (Basel)2022
35947615An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease.Proc Natl Acad Sci U S A2022
34890546Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.Am J Hum Genet2022
35289079Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.Am J Med Genet C Semin Med Genet2022
34888854Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Ann Hum Genet2022
34853893Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.Hum Genet2022
35031326Kidney traits on repeat-the role of MUC1 VNTR.Kidney Int2022
32643034Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.J Nephrol2021
35498882Cutaneous manifestations of acute kidney injury.Clin Kidney J2021
33486889Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Mol Genet Genomic Med2021
33707627Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.Eur J Hum Genet2021
33549588Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases.Kidney Int2021
34917135Case Report: A Novel In-Frame Deletion of <i>GLIS2</i> Leading to Nephronophthisis and Early Onset Kidney Failure.Front Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34732400Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ2021
34423300Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.Brain Commun2021
34650143A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.Sci Rep2021
34155518Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.J Cell Sci2021
33960378Molecular genetics of renal ciliopathies.Biochem Soc Trans2021
33958773Clinical versus research genomics in kidney disease.Nat Rev Nephrol2021
34175048Gene and epigenetic editing in the treatment of primary ciliopathies.Prog Mol Biol Transl Sci2021
31826708ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.Small GTPases2021
33429040Cell preservation methods and its application to studying rare disease.Mol Cell Probes2021
32918941Cystinuria: clinical practice recommendation.Kidney Int2021
31578736The challenges of diagnosis and management of Gitelman syndrome.Clin Endocrinol (Oxf)2020
33623699Novel pathogenic <i>MAPKBP1</i> variant in a family with nephronophthisis.Clin Kidney J2020
31935940Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.Int J Mol Sci2020
31710777Healthcare recommendations for Joubert syndrome.Am J Med Genet A2020
32064497SGLT2 inhibitors - a potential treatment for Alport syndrome.Clin Sci (Lond)2020
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Collaborators

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Boston Children's Hospital
Co-authored papers 25
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Cleveland Clinic
Co-authored papers 7
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Co-authored papers 6
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Co-authored papers 5
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Co-authored papers 4
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University of Cambridge
Co-authored papers 4
Paul Brennan
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Co-authored papers 4
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University of Washington
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Royal Victoria Infirmary
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National Eye Institute, National Institutes of Health
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University of Cambridge
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Detlef Bockenhauer
Great Ormond Street Hospital for Children, NHS Foundation Trust
Co-authored papers 3
Heymut Omran
University Hospital Muenster
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Christopher J Penkett
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Co-authored papers 2
Rodrigo Andres Floto
University of Cambridge
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Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 2
Augusto Rendon
Genomics England Ltd
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
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Nicholas Katsanis
Northwestern University
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Frances Lucy Raymond
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