J. Sayer

Deepak Kumar Sharma, E. Frangou, M. Zacchia, 2020, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Renal expression of Ca 2+-activated Cl - channels

N. Simmons, J. Sayer, M. Glanville, 2002 .

Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series

D. Goldfarb, J. Sayer, P. Rich, 2020, Urolithiasis.

A preliminary survey of practice patterns across several European kidney stone centers and a call for action in developing shared practice

G. Capasso, G. Gambaro, E. Letavernier, 2019, Urolithiasis.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

D. Thwaites, J. Sayer, G. Welsh, 2015, Clinical journal of the American Society of Nephrology : CJASN.

Clinical versus research genomics in kidney disease

Z. Stark, A. Mallett, J. Sayer, 2021, Nature Reviews Nephrology.

Molecular genetics of renal ciliopathies.

J. Sayer, E. Olinger, M. Barroso-Gil, 2021, Biochemical Society transactions.

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants

D. Gale, J. Sayer, C. Bergmann, 2021, Annals of human genetics.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

J. Sayer, H. Mabillard, E. Olinger, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1.

K. Dahan, T. Fehr, D. Gale, 2020, Kidney international.

Renal ciliopathies.

J. Sayer, L. Devlin, 2019, Current opinion in genetics & development.

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

Kidney Disease in Oman: a View of the Current and Future Landscapes.

J. Sayer, A. A. Al Mawali, I. Al Salmi, 2017, Iranian journal of kidney diseases.

An 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

Emilie Cornec-Le Gall, G. Capasso, R. Müller, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

E. Molinari, J. Sayer, A. A. Al Mawali, 2020, BMC Nephrology.

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

R. Salomon, C. Antignac, S. Saunier, 2007, Kidney international.

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

J. Sayer, M. Al Riyami, Badria Al Ghaithi, 2019, Kidney international reports.

Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes

J. Sayer, J. Morrison, M. Islam, 2020, Endocrine connections.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

The Medical Management of Urolithiasis

J. Sayer, S. Moochhala, D. Thomas, 2010 .

Variable Phenotypes Seen with a Homozygous CYP24A1 Mutation: Case Report

J. Sayer, J. Tamatea, M. Elston, 2020, SN Comprehensive Clinical Medicine.

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

T. Knöpfel, F. Hildebrandt, J. Sayer, 2019, Human Genetics.

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

J. Sayer, R. Hyšpler, V. Palička, 2019, Kidney and Blood Pressure Research.

Clinical and Biochemical Features of Patients with CYP24A1 Mutations

J. Sayer, F. Hill, 2017 .

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole

R. Quinton, J. Sayer, A. Hynes, 2015, Clinical kidney journal.

Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis.

J. Sayer, 2015, European urology.

The Genetics of Nephrolithiasis

J. Sayer, 2008, Nephron Experimental Nephrology.

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

E. Molinari, J. Sayer, Shalabh Srivastava, 2020, BMC Nephrology.

Clinical and Functional Characterization of URAT1 Variants

Z. Gucev, V. Tasic, H. Cheong, 2011, PloS one.

Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.

S. Ellard, R. Quinton, J. Sayer, 2011, QJM : monthly journal of the Association of Physicians.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

S. Ellard, J. Sayer, B. Vaidya, 2012, QJM : monthly journal of the Association of Physicians.

Cutaneous manifestations of acute kidney injury

N. Reynolds, J. Sayer, S. Meggitt, 2021, Clinical kidney journal.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products.

M. Gerner, F. Hildebrandt, E. Otto, 2008, Human molecular genetics.

Variable phenotypic presentations of renal involvement in Fabry disease: a case series

J. Sayer, P. Brennan, Sarah McCloskey, 2018, F1000Research.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

Precision medicine in renal stone-formers

J. Sayer, F. Hill, 2018, Urolithiasis.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

P. Trouvé, P. Harris, B. Knebelmann, 2022, American journal of human genetics.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

J. Clayton-Smith, U. Kini, E. Boltshauser, 2021, Brain communications.

Sarcoidosis presenting with hypercalcaemia following withdrawal of long-term immunosuppression in renal transplantation

J. Sayer, E. Wong, A. Husain, 2014, Oxford medical case reports.

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

M. Eccles, H. Hennies, F. Hildebrandt, 2005, Pediatric Nephrology.

Tenofovir disoproxil fumarate-associated renal tubular dysfunction: noninvasive assessment of mitochondrial injury

J. Sayer, B. Payne, D. Price, 2017, AIDS.

OP-NDTJ170077 1..6

R. Sandford, O. Devuyst, J. Sayer, 2017 .

Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype

J. Sayer, J. Dyson, David Jones, 2022, BMJ Case Reports.

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes

E. Molinari, J. Sayer, S. Ramsbottom, 2018, F1000Research.

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

E. Molinari, J. Sayer, S. Ramsbottom, 2018, F1000Research.

Diagnosis and Clinical Biochemistry of Inherited Tubulopathies

S. Pearce, J. Sayer, Simon H. S. Pearce, 2001, Annals of clinical biochemistry.

Mutations in SLC26A1 Cause Nephrolithiasis.

Min Goo Lee, Z. Gucev, V. Tasic, 2016, American journal of human genetics.

Multiple thyroid cysts as an extra-renal manifestation of ADPKD

J. Sayer, Abdulfattah Alejmi, 2008, NDT plus.

Primary hyperparathyroidism: just how ‘primary’ is it really?

R. Quinton, S. Pearce, J. Sayer, 2010, Therapeutic advances in endocrinology and metabolism.

Case Report: Renal potassium wasting in SARS-CoV-2 infection

J. Sayer, D. Price, H. Mabillard, 2020, F1000Research.

Case Report : Renal potassium wasting in SARS-CoV-2 infection [ version 2 ; peer review : 2 approved ]

J. Sayer, D. Price, H. Mabillard, 2020 .

Previously titled: SARS-CoV-2 and hypokalaemia: evidence and implications

J. Sayer, H. Mabillard, 2020 .

Case Report: Renal potassium wasting in SARS-CoV-2 infection.

J. Sayer, D. Price, H. Mabillard, 2020, F1000Research.

CYP24A1 mutation leading to nephrocalcinosis.

J. Sayer, A. Hynes, J. Sayers, 2014, Kidney international.

Outcomes from the Northeast England cohort of autosomal dominant polycystic kidney disease (ADPKD) patients on tolvaptan

J. Sayer, H. Davidson, Shalabh Srivastava, 2022, Frontiers in Nephrology.

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

V. Tasic, F. Hildebrandt, J. Sayer, 2018, Physiological reports.

Seasonal hypercalcaemia; consider CYP24A1 mutation.

J. Sayer, J. Willows, 2018, QJM : monthly journal of the Association of Physicians.

The challenges of diagnosis and management of Gitelman syndrome

J. Sayer, S. Urwin, J. Willows, 2020, Clinical endocrinology.

SARS-CoV-2 and hypokalaemia: evidence and implications [version 1; peer review: awaiting peer review]

J. Sayer, H. Mabillard, 2020 .

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

P. Chinnery, C. Gustafsson, D. Gale, 2017, PLoS genetics.

Acute renal failure from contrast medium: Beware patients taking metformin…

J. Sayer, 2006, BMJ : British Medical Journal.

Regarding "Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis".

J. Sayer, Ian Wilson, R. Geraghty, 2020, Kidney international.

Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations

J. Sayer, M. Borhany, T. Shamsi, 2015, Clinical Genetics.

Successful treatment of priapism with intracorporeal epinephrine.

J. Sayer, C. Parsons, 1988, The Journal of urology.

Characterization of CSF 2 RA mutation related juvenile pulmonary alveolar proteinosis

M. Gappa, J. Sayer, N. Kiper, 2014 .

Genetic testing can resolve diagnostic confusion in Alport syndrome

D. Gale, T. Connor, J. Sayer, 2013, Clinical kidney journal.

Nephrocalcinosis: molecular insights into calcium precipitation within the kidney.

N. Simmons, J. Sayer, G. Carr, 2004, Clinical science.

The impact of consanguinity on human health and disease with an emphasis on rare diseases

J. Sayer, G. Temaj, N. Nuhii, 2022, Journal of Rare Diseases.

UMOD and you! Explaining a rare disease diagnosis

J. Sayer, H. Mabillard, E. Olinger, 2022, Journal of Rare Diseases.

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

J. Sayer, B. Meyer, M. Al-Hamed, 2010, NDT plus.

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients

J. Sayer, M. Abduljabbar, M. Dasouki, 2022, Human mutation.

Case Report : Renal potassium wasting in SARS-CoV-2 infection [ version 1 ; peer review : 1 approved , 1 approved with reservations ]

J. Sayer, D. Price, H. Mabillard, 2021 .

Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease

J. Sayer, H. Mabillard, Shalabh Srivastava, 2017, Case reports in nephrology.

The Molecular Genetics of Gordon Syndrome

J. Sayer, H. Mabillard, 2019, Genes.

Cystinuria: clinical practice recommendation.

M. Bultitude, M. Daudon, S. Doizi, 2020, Kidney international.

Cystinuria revisited: presentations with calcium-containing stones demands vigilance and screening in the stone clinic

D. Thwaites, J. Sayer, J. Halbritter, 2014 .

Calcium oxalate crystal deposition in the kidney: identification, causes and consequences

J. Sayer, K. Wood, R. Geraghty, 2020, Urolithiasis.

Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

J. Sayer, 2017, Journal of the American Society of Nephrology : JASN.

Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells

J. Sayer, G. Carr, N. Simmons, 2006, Cellular and Molecular Life Sciences CMLS.

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Z. Gucev, V. Tasic, D. Thwaites, 2015, Journal of the American Society of Nephrology : JASN.

Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells.

J. Sayer, G. Carr, N. Simmons, 2004, Biochimica et biophysica acta.

Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells.

S. Pearce, N. Simmons, J. Sayer, 2003, Biochemical and biophysical research communications.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Shrikant Mane, R. Lifton, Z. Gucev, 2018, Kidney international.

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

J. Sayer, Fay J Dickson, 2020, International journal of molecular sciences.

Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies

E. Molinari, J. Sayer, R. M. Dewhurst, 2023, Microfluidics and Nanofluidics.

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

E. Molinari, J. Sayer, 2019, Translational Science of Rare Diseases.

Cell preservation methods and its application to studying rare disease.

E. Molinari, J. Sayer, R. M. Dewhurst, 2021, Molecular and cellular probes.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

M. Boerries, I. Wilson, T. Eisenberger, 2022, American journal of human genetics.

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Caitlin V. Miller, D. Nickerson, M. Bamshad, 2020, The Journal of clinical investigation.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

E. Molinari, H. Cordell, G. Clowry, 2019, Proceedings of the National Academy of Sciences.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Colin A. Johnson, E. Molinari, F. Hildebrandt, 2018, European Journal of Human Genetics.

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

P. Thelwall, N. Simmons, J. Sayer, 2014, Proceedings of the National Academy of Sciences.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

Robert W. Taylor, P. Chinnery, R. Horvath, 2019, Human molecular genetics.

Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

P. Welling, J. Sayer, K. Wood, 2013, Physiological reports.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

R. Reinhardt, J. Hellemans, A. Swaroop, 2005, Nature Genetics.

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

J. Sayer, W. Kurdi, M. Abouelhoda, 2021, Human Genetics.

Gene and epigenetic editing in the treatment of primary ciliopathies.

E. Molinari, J. Sayer, 2021, Progress in molecular biology and translational science.

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

H. Cordell, W. Newman, A. Woolf, 2020, Kidney international reports.

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

E. Faqeih, J. Sayer, B. Meyer, 2013, Journal of Human Genetics.

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

E. Molinari, J. Sayer, S. Ramsbottom, 2021, Molecular genetics & genomic medicine.

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.

T. Strachan, J. Goodship, J. Sayer, 2002, Human molecular genetics.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

A. Swaroop, H. Khanna, C. Lillo, 2006, Human molecular genetics.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

E. Molinari, I. Wilson, E. Faqeih, 2021, Human mutation.

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

M. Caulfield, P. Chinnery, R. Horvath, 2021, BMJ.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

A. Köttgen, J. Florez, M. Jadoul, 2022, Kidney international.

Review for "Meckel syndrome: Clinical and mutation profile in six fetuses"

J. Sayer, 2019 .

Jcb: Article

A. Ashley-Koch, N. Katsanis, S. Saunier, 2022 .

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

J. Sayer, W. Kurdi, B. Meyer, 2016, Journal of Medical Genetics.

Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease

J. Sayer, D. Price, P. Haslam, 2015, Oxford medical case reports.

Acquired C1-inhibitor deficiency presenting with nephrotic syndrome

J. Sayer, K. Wood, H. Bourne, 2019, BMJ Case Reports.

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

J. Sayer, W. Kurdi, M. Al-Hamed, 2020, Journal of Nephrology.

Murine phenotypes are modified by genetic Cep 290 backgrounds and provide an impetus for investigating disease modifier alleles

J. Sayer, S. Ramsbottom, C. Miles, 2016 .

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

K. Cimprich, J. Sayer, M. Zeman, 2015, The Journal of clinical investigation.

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles

J. Sayer, S. Ramsbottom, C. Miles, 2015, F1000Research.

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

D. Gudbjartsson, U. Thorsteinsdóttir, K. Stefánsson, 2021, European Journal of Human Genetics.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

J. Mullikin, P. Choyke, I. Glass, 2017, Clinical journal of the American Society of Nephrology : CJASN.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Yan Liu, Michael A Kennedy, Hemant Khanna, 2006, Nature Genetics.

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

E. Molinari, J. Sayer, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

E. Molinari, J. Sayer, S. Raman, 2018, Front. Pediatr..

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

F. Hildebrandt, M. Wolf, J. Sayer, 2011, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Healthcare recommendations for Joubert syndrome

I. Glass, W. Zein, E. Valente, 2019, American journal of medical genetics. Part A.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Adriana V Gregory, Adriana V. Gregory, T. Kline, 2021, American journal of human genetics.

Evidence of digenic inheritance in Alport syndrome

K. Dahan, C. Antignac, B. Knebelmann, 2015, Journal of Medical Genetics.

The challenges and surprises of a definitive molecular genetic diagnosis.

J. Sayer, R. Simms, 2014, Kidney international.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

I. Glass, H. Omran, F. Hildebrandt, 2007, Journal of Medical Genetics.

Sphingosine phosphate lyase insufficiency syndrome: a systematic review

J. Sayer, Z. Chavoshzadeh, F. Nili, 2022, World Journal of Pediatrics.

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases

E. Molinari, J. Sayer, Yuya Sugano, 2021, Journal of cell science.

From disease modelling to personalised therapy in patients with CEP290 mutations

E. Molinari, J. Sayer, S. Ramsbottom, 2017, F1000Research.

A role for CBS domain 2 in trafficking of chloride channel CLC-5.

N. Simmons, J. Sayer, G. Carr, 2003, Biochemical and biophysical research communications.

Naturally occurring antisense RNA: function and mechanisms of action

J. Sayer, A. Werner, 2009, Current opinion in nephrology and hypertension.

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family

J. Sayer, W. Kurdi, M. Al-Hamed, 2016, Clinical kidney journal.

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

J. Goodship, V. Vega-Warner, E. Otto, 2015, BMC Medical Genetics.

Urolithiasis as an extraarticular manifestation of ankylosing spondylitis

J. Sayer, C. Korkmaz, D. Cansu, 2017, Rheumatology International.

Renal Potassium Handling and Associated Inherited Tubulopathies Leading to Hypokalemia

J. Sayer, J. Stojanovic, 2012 .

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

E. Molinari, M. Gunay‐Aygun, J. Sayer, 2019, Scientific Reports.

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

J. Sayer, R. Simms, B. Chaudhry, 2011, Cellular and Molecular Life Sciences.

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

D. Seelow, F. Hildebrandt, M. Attanasio, 2007, Nature Genetics.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Colin A. Johnson, E. Molinari, F. Hildebrandt, 2018, European Journal of Human Genetics.

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development

E. Molinari, G. Clowry, J. Sayer, 2020, BMC developmental biology.

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses

J. Sayer, S. Ismail, L. Powell, 2019, Small GTPases.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

E. Molinari, F. Alkuraya, J. Sayer, 2018, American journal of human genetics.

Nephronophthisis: A Genetically Diverse Ciliopathy

J. Sayer, R. Simms, L. Eley, 2011, International journal of nephrology.

Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants

P. Mead, J. Sayer, Ananya Das, 2023, Journal of Rare Diseases.

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

J. Sayer, A. A. Al Mawali, I. Al Salmi, 2017, International journal of nephrology.

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

J. Sayer, M. Al-Hamed, F. Imtiaz, 2022, Genes.

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

N. Cengiz, R. Lifton, F. Hildebrandt, 2015, Kidney international.

Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

Colin A. Johnson, F. Hildebrandt, J. Sayer, 2008, Kidney international.

Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease

Y. Caliskan, J. Sayer, K. Wood, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Human transmissible spongiform encephalopathies.

R. Paschke, S. Dave, F. Lammert, 1998, Releve epidemiologique hebdomadaire.

A meckelin-filamin A interaction mediates ciliogenesis.

Colin A. Johnson, S. Cross, K. Gull, 2012, Human molecular genetics.

Hyperammonaemic coma post-renal transplantation

J. Sayer, I. Nesbitt, B. Jaques, 2003 .

Re: Sagy I, Zeldetz V, Halerin D, Abu Tailakh M, Novack V. The effect of Ramadan fast on the incidence of renal colic emergency department visits.

J. Sayer, F. A. Hill, 2018, QJM : monthly journal of the Association of Physicians.

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

D. Nilsson, S. Enerbäck, J. Sayer, 2017, Journal of the American Society of Nephrology : JASN.

Urinary Concentration Defects and Mechanisms Underlying Nephronophthisis

J. Sayer, L. Eley, R. Krishnan, 2008, Kidney and Blood Pressure Research.

Juvenile nephronophthisis on MRI—a potential case of Joubert syndrome?

J. Sayer, R. Simms, 2010, Pediatric Radiology.

A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

Yaobo Xu, M. Santibanez-Koref, D. Thwaites, 2014, Clinical kidney journal.

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

A. Green, H. Cordell, D. Barton, 2018, Scientific Reports.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

Is there anything good in uric acid?

J. Sayer, A. Hynes, 2012, QJM : monthly journal of the Association of Physicians.

Identification and significance of dysmorphic versus isomorphic hematuria.

J. Sayer, J. Schmidt, M. McCarthy, 1990, The Journal of urology.

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

E. Molinari, J. Sayer, A. A. Al Mawali, 2020, BMC Nephrology.

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

J. Sayer, M. Al-Riyami, I. Al Salmi, 2021, Frontiers in Genetics.

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

A. Köttgen, I. Wilson, K. Eckardt, 2021, medRxiv.

Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies

E. Molinari, J. Sayer, R. M. Dewhurst, 2023, Microfluidics and Nanofluidics.

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

E. Molinari, H. Cordell, N. S. Thomas, 2022, Clinical genetics.

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

S. Pearce, J. Sayer, A. Deeb, 2013, BMC Research Notes.

Urinary Stone Formation: Dent’s Disease Moves Understanding Forward

N. Simmons, J. Sayer, 2002, Nephron Experimental Nephrology.

The voltage‐dependent Cl− channel ClC‐5 and plasma membrane Cl− conductances of mouse renal collecting duct cells (mIMCD‐3)

N. Simmons, J. Sayer, T. Goodship, 2001, The Journal of physiology.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)

M. Marlais, D. Gale, P. Winyard, 2019, BMC Nephrology.

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

S. Lindsay, J. Sayer, R. Simms, 2012, PloS one.

Nephronophthisis

J. Sayer, R. Simms, L. Eley, 2009, European Journal of Human Genetics.

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

J. Sayer, E. Olinger, I. Al Salmi, 2021, F1000Research.

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.

J. Sayer, E. Olinger, I. Al Salmi, 2021, F1000Research.

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

J. Sayer, W. Kurdi, M. Al-Hamed, 2020, Genes.

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

Z. Gucev, V. Tasic, F. Hildebrandt, 2016, Clinical journal of the American Society of Nephrology : CJASN.

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

R. Kahn, S. Riazuddin, Z. Ahmed, 2019, Investigative ophthalmology & visual science.

Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.

F. Hildebrandt, J. Sayer, R. Simms, 2008, Biochemical and biophysical research communications.

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

J. Sayer, C. Bergmann, Steffen Neuber, 2019, Urolithiasis.

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

P. Harris, A. Ong, A. Mallett, 2020, Kidney international.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

A. Ashley-Koch, N. Katsanis, S. Saunier, 2015, The Journal of cell biology.

JCB_201411087 1..14

A. Ashley-Koch, N. Katsanis, S. Saunier, 2015 .

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers

Z. Gucev, V. Tasic, N. Blau, 2011, Pediatric Nephrology.

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly—questions

Z. Gucev, V. Tasic, N. Blau, 2011, Pediatric Nephrology.

Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership

P. Winyard, R. Sandford, A. Ong, 2022, BMJ Open.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

T. Liehr, J. Sayer, L. Spahiu, 2022, F1000Research.

Renal ciliopathies: promising drug targets and prospects for clinical trials

J. Sayer, L. Devlin, Praveen Dhondurao Sudhindar, 2023, Expert opinion on therapeutic targets.

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

E. Molinari, M. Gunay‐Aygun, J. Sayer, 2019, Scientific Reports.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report.

J. Sayer, Maryam Al Badi, J. Willows, 2019, F1000Research.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

J. Sayer, Aisha Al Sinani, Maryam Al Badi, 2019, F1000Research.

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

J. Sayer, W. Kurdi, N. Al-Numair, 2019, Pediatric Nephrology.

Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan

R. Müller, J. Sayer, C. Haas, 2017, Clinical kidney journal.

Case Report: Making a diagnosis of familial renal disease – clinical and patient perspectives

J. Sayer, Z. Iqbal, 2017, F1000Research.

ANKH and Renal Stone Formation in Ankylosing Spondylitis

J. Sayer, C. Korkmaz, 2012, The Journal of Rheumatology.

Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

J. Sayer, H. Mabillard, Anisa Al Maskari, 2023, Molecular genetics & genomic medicine.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

R. Sandford, O. Devuyst, J. Sayer, 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Electrolyte Disturbances in SARS-CoV-2 Infection

J. Sayer, H. Mabillard, 2020, F1000Research.

SARS-CoV-2 and hypokalaemia: evidence and implications.

J. Sayer, H. Mabillard, 2020, F1000Research.

SARS-CoV-2 and hypokalaemia: evidence and implications [version 1; peer review: 1 not approved]

J. Sayer, H. Mabillard, 2021 .

Post-transplant diabetes.

J. Sayer, S. Duffy, 2019, Clinical medicine (London).

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

S. Pearce, J. Sayer, A. Deeb, 2013, BMC Research Notes.

Extracellular calcium‐sensing receptor dysfunction is associated with two new phenotypes

J. Sayer, S. Pearce, 2003, Clinical endocrinology.