Prominent publications by Andrew John Mallett

KOL Index score: 8816

BACKGROUND: There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care throughout Queensland, Australia.

METHODS: Data from the first 2,935 patients consented to the CKD.QLD registry across five sites was analysed, with a comparison between ...

Known for Chronic Kidney Disease |  Ckd Adults |  Genetic Renal |  Kidney Failure |  Patients Grd
KOL Index score: 8383

BACKGROUND/AIM: This study aimed to report the clinical characteristics and outcomes of Australian patients treated with eculizumab for atypical haemolytic uraemic syndrome (aHUS).

METHODS: A retrospective cohort study was undertaken of all patients in Australia treated with eculizumab provided in a compassionate access programme for a clinical diagnosis of aHUS using prospectively collected clinical data.

RESULTS: A total of 10 patients with a median age of 23.5 years (interquartile ...

Known for Eculizumab Treatment |  Ahus Patients |  Median Duration |  Kidney Transplantation |  Atypical Hemolytic
KOL Index score: 6741

AIM: This study aimed to identify consumer perspectives on topics and outcomes to integrate in the Kidney Health Australia Caring for Australasians with Renal Impairment (KHA-CARI) clinical practice guidelines on autosomal-dominant polycystic kidney disease (ADPKD).

METHODS: A workshop involving three concurrent focus groups with 18 consumers (patients with ADPKD (n = 15), caregivers (n = 3)) was convened. Guideline topics, interventions and outcomes were identified, and integrated into ...

Known for Autosomal Dominant |  Health Professionals |  Kidney Disease |  Practice Guidelines |  Guideline Development
KOL Index score: 6073

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national ...

Known for Kidney Disease |  Genetic Diagnosis |  Humans Infant Infant |  Causative Genes |  Massively Parallel
KOL Index score: 6026

BACKGROUND: Fibrillary glomerulonephritis (FGN) and immunotactoid glomerulopathy (IG) are uncommon and characterised by non-amyloid fibrillary glomerular deposits. The aim of this study was to investigate characteristics and outcomes of patients undergoing renal replacement therapy (RRT) for end-stage kidney disease (ESKD) secondary to FGN and IG.

METHODS: All ESKD patients who commenced RRT in Australia and New Zealand 1 January 1990 to 31 December 2010 were included. Outcomes were ...

Known for Fibrillary Glomerulonephritis |  Patients Fgn |  Kidney Disease |  Renal Dialysis |  Failure Chronic
KOL Index score: 5512

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated from induced pluripotent stem cells (iPSCs) of individuals affected by inherited renal disease represent a potential, but unvalidated, platform for the functional validation of novel gene variants and investigation of underlying pathogenetic mechanisms. In this study, trio whole-exome sequencing of a prospectively ...

Known for Kidney Organoids |  Epithelial Cells |  Renal Disease |  Pluripotent Stem |  Gene Editing
KOL Index score: 5510

BACKGROUND: Alport syndrome is a rare inheritable renal disease. Clinical outcomes for patients progressing to end-stage kidney disease (ESKD) are not well described.

METHODS: This study aimed to investigate the characteristics and clinical outcomes of patients from Australia and New Zealand commencing renal replacement therapy (RRT) for ESKD due to Alport syndrome between 1965 and 1995 (early cohort) and between 1996 and 2010 (contemporary cohort) compared with propensity score-matched, ...

Known for Alport Syndrome |  Kidney Disease |  Patient Survival |  Transplant Outcomes |  Nephritis Hereditary
KOL Index score: 5340

Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting multiple organs, mutations in the control region have never been shown to cause ...

Known for Mitochondrial Dna |  Kidney Disease |  Control Region |  Patient Fibroblasts |  Rna Transfer
KOL Index score: 5161

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.

RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); ...

Known for Renal Tubular |  Primary Distal |  Ckd Stage |  Adequate Metabolic Control |  Term Outcome
KOL Index score: 4981

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype. Thirteen different loss-of-function variants were ...

Known for Kidney Disease |  Pathogenic Variants |  Renal Cysts |  Precise Diagnosis |  Genomics England
KOL Index score: 4777

PurposeWidespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.MethodsDraft standards were ...

Known for Genomics Education |  Item Standards |  Health Professionals |  Evaluation Reporting |  Ensuring Practice
KOL Index score: 4481

Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary functions. This ...

Known for Kidney Diseases |  Renal Ciliopathies |  Ciliary Proteins |  Primary Cilia |  Signal Transduction
KOL Index score: 4398

Genome-wide association studies (GWASs) of medication use may contribute to understanding of disease etiology, could generate new leads relevant for drug discovery and can be used to quantify future risk of medication taking. Here, we conduct GWASs of self-reported medication use from 23 medication categories in approximately 320,000 individuals from the UK Biobank. A total of 505 independent genetic loci that meet stringent criteria (P < 10−8/23) for statistical significance are ...

Known for Uk Biobank |  Genome Wide |  Biological Mechanism |  Genetic Loci |  Medication Classes
KOL Index score: 4105

Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology.

Methods: An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published ...

Known for Clinical Genomics |  Genomic Testing |  Urgently Required |  Survey Administered
KOL Index score: 3465

BackgroundThe Australian Institute of Health and Welfare’s first report into acute kidney injury demonstrated a significant increase in the incidence of acute-tubulo interstitial nephritis, the ICD-10 code representing both acute interstitial nephritis and pyelonephritis, in women aged less than 55 years. In contrast, recent case series have reported rising rates of drug induced acute interstitial nephritis predominantly among elderly patients. Due to several limitations with the ...

Known for Acute Interstitial Nephritis |  Renal Biopsy |  Institute Health |  Kidney Injury |  Drug Induced


Andrew John Mallett: Influence Statistics

Sample of concepts for which Andrew John Mallett is among the top experts in the world.
Concept World rank
hereditary leiomyomatosis bhd #2
surveillance guidelines bhd #2
surveillance 29 #2
bhd hlrcc #2
hlrcc median #2
bhd 29 #2
years bhd #2
bhd hlrcc cohort #2
hlrcc diagnosed #2
surveillance 29 patients #2
28 hlrcc #2
longitudinal screening bhd #2
bhd hlrcc patients #2
29 patients hlrcc #2
surveillance 47 years #2
rcc commencement #2
commencement surveillance #2
patients 28 bhd #2
incidental clinical variables #2
diagnosis longitudinal screening #2
bhd diagnosed #2
28 bhd #2
29 hlrcc #2
surveillance 47 #3
29 surveillance #3
nephrogenetic disorders #5
screening bhd #6
patient diagnosis diagnosis #6
collection registry data #7
genomics nephrogenetic disorders #7
translating nephrogenetics #7
costeffectiveness genomic testing #7
bhd hereditary #7
interregistry collaboration #7
genomic testing costeffectiveness #7
genomic technologies genes #7
sharerr #7
interregistry #7
ongoing validation cohort #7
limited researcher incentives #7
mixture rapid increase #7
79 kidneyfailure registries #7
knowledge reduced cost #7
grd clinicians #7
genomic testing usual #7
new additional approaches #8
renal genetics clinic #8
clinical genomic technologies #8
familial fibrillary #8
genetic diagnoses order #8

Key People For Kidney Disease

Top KOLs in the world
Andrew S Levey
kidney disease serum creatinine glomerular filtration rate
Joseph Coresh
atherosclerosis risk kidney disease african americans
Tom H Greene
kidney disease african americans blood pressure
John Walter Kusek
chronic kidney disease urinary incontinence interstitial cystitis
Giuseppe Remuzzi
global burden renal disease kidney transplantation
Adeera Levin
kidney disease peritoneal dialysis british columbia

Andrew John Mallett:Expert Impact

Concepts for whichAndrew John Malletthas direct influence:Kidney disease,  Genomic testing,  Chronic kidney disease,  Polycystic kidney,  Autosomal dominant,  Fibrillary glomerulonephritis,  Pathogenic variants,  Kidney transplant.

Andrew John Mallett:KOL impact

Concepts related to the work of other authors for whichfor which Andrew John Mallett has influence:Kidney disease,  Genetic testing,  Alport syndrome,  Autosomal dominant,  Exome sequencing,  Fibrillary glomerulonephritis,  Pluripotent stem cells.



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Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia | College of Medicine, James Cook University, Townsville, Queensland, Australia | KidGen Collaborative, Australian Genomics Health Alliance, Melbo

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