Nina Mann

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
  2023 L1 85/100

1 assessed by us (1 reproduced) · 83 not yet assessed — every PubMed paper on record, linked below.

• Rare diagnostic challenge of an ulcerated scalp nodule in an older patient ↗

  Clinical and Experimental Dermatology · 2026 · PMID 41685826
  not yet assessed
• Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families ↗

  Genetics in Medicine · 2025 · PMID 40223730
  not yet assessed
• Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology ↗

  Pediatric Nephrology · 2025 · PMID 39945861
  not yet assessed
• The importance of screening for <i>Staphylococcus aureus</i> in skin reactions to diabetes technology: not a rash decision ↗

  Clinical and Experimental Dermatology · 2025 · PMID 40985501
  not yet assessed
• Next-generation nephrology: part 2—mainstreaming genomics in nephrology, a global perspective ↗

  Pediatric Nephrology · 2025 · PMID 40019555
  not yet assessed
• The structure of amyloid-β (1–42) oligomers in membrane-mimetic environments ↗

  Spectrochimica Acta Part A Molecular and Biomolecular Spectroscopy · 2025 · PMID 40915123
  not yet assessed
• Mechanisms of podocyte injury in genetic kidney disease ↗

  Pediatric Nephrology · 2024 · PMID 39485497
  not yet assessed
• Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes ↗

  npj Genomic Medicine · 2024 · PMID 39622807
  not yet assessed
• Advancing the state of the art in congenital obstructive uropathy ↗

  Nature Reviews Urology · 2024 · PMID 39613986
  not yet assessed
• Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome ↗

  Genes & Diseases · 2024 · PMID 39584075
  not yet assessed
• Genetic Contributions to Lower Urinary Tract Dysfunction ↗

  American Journal of Medical Genetics Part A · 2024 · PMID 39229650
  not yet assessed
• A superclinic model for tackling skin cancer referrals ↗

  Clinical and Experimental Dermatology · 2024 · PMID 38365308
  not yet assessed
• P05 Pre-visit online paediatric atopic dermatitis questionnaire – a feasibility study ↗

  British Journal of Dermatology · 2024
  not yet assessed
• Single-Center Experience in Establishing a Pediatric Kidney Genetics Clinic ↗

  Journal of the American Society of Nephrology · 2024
  not yet assessed
• Trio Exome Sequencing Implicates Wnt Signaling in the Pathogenesis of Bladder-Exstrophy-Epispadias Complex ↗

  Journal of the American Society of Nephrology · 2024
  not yet assessed
• Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney ↗

  ˜The œNephron journals/Nephron journals · 2023 · PMID 37499630
  not yet assessed
• Recessive <scp><i>CHRM5</i></scp> variant as a potential cause of neurogenic bladder ↗

  American Journal of Medical Genetics Part A · 2023 · PMID 37213061
  not yet assessed
• Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients ↗

  JAMA Network Open · 2023 · PMID 37874565
  not yet assessed
• BG09 <i>RASA1</i> exon deletion in a neonate with vascular malformations ↗

  British Journal of Dermatology · 2023
  not yet assessed
• Swabbing for Staphylococcus in skin reactions to diabetic devices: not a rash decision ↗

  Endocrine Abstracts · 2023
  not yet assessed
• Breaking down the barriers in allergic contact dermatitis to continuous glucose monitors ↗

  Endocrine Abstracts · 2023
  not yet assessed
• Supplementary Material for: Prioritization of monogenic CAKUT candidate genes with existing single-cell transcriptomics data of the human fetal kidney ↗

  Figshare · 2023
  not yet assessed
• Supplementary Material for: Prioritization of monogenic CAKUT candidate genes with existing single-cell transcriptomics data of the human fetal kidney ↗

  Figshare · 2023
  not yet assessed
• Exome Sequencing in Individuals with CAKUT Identifies De Novo Variants in Novel Candidate Genes in 15.5% ↗

  Journal of the American Society of Nephrology · 2023
  not yet assessed
• Genetic Contributions to Lower Urinary Tract Dysfunction ↗

  Journal of the American Society of Nephrology · 2023
  not yet assessed
• Molecular Mechanisms of Neonatal-Onset WT1-Related Glomerulopathy ↗

  Journal of the American Society of Nephrology · 2023
  not yet assessed
• The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR ↗

  Pediatric Nephrology · 2022 · PMID 35083530
  not yet assessed
• Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract ↗

  European Urology Open Science · 2022 · PMID 36185583
  not yet assessed
• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

  Journal of the American Society of Nephrology · 2022 · PMID 36414417
  L1 85/100
• Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models ↗

  American Journal of Medical Genetics Part A · 2022 · PMID 35040250
  not yet assessed
• Approach to pediatric renal disorders ↗

  Elsevier eBooks · 2022
  not yet assessed
• Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT ↗

  Genetics in Medicine · 2021 · PMID 34906515
  not yet assessed
• Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice ↗

  Science Advances · 2021 · PMID 33523862
  not yet assessed
• Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome ↗

  Journal of the American Society of Nephrology · 2021 · PMID 33593823
  not yet assessed
• De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis ↗

  The American Journal of Human Genetics · 2021 · PMID 33508234
  not yet assessed
• Exome survey of individuals affected by <scp>VATER</scp>/<scp>VACTERL</scp> with renal phenotypes identifies phenocopies and novel candidate genes ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 34338422
  not yet assessed
• Whole-exome sequencing identifies<i>FOXL2</i>,<i>FOXA2</i>and<i>FOXA3</i>as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract ↗

  Nephrology Dialysis Transplantation · 2021 · PMID 34473308
  not yet assessed
• A truncating <scp><i>NRIP1</i></scp> variant in an Arabic family with congenital anomalies of the kidneys and urinary tract ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 34525250
  not yet assessed
• Whole-Exome Sequencing Identifies FOXL2, FOXA2, and FOXA3 as Candidate Genes for Monogenic Congenital Anomalies of the Kidneys and Urinary Tract ↗

  Journal of the American Society of Nephrology · 2021
  not yet assessed
• A hemodialysis patient with difficulty ambulating: Answers ↗

  Pediatric Nephrology · 2021 · PMID 33474685
  not yet assessed
• A hemodialysis patient with difficulty ambulating: Questions ↗

  Pediatric Nephrology · 2021 · PMID 33474684
  not yet assessed
• Whole-Exome Sequencing Identifies Likely Deleterious Variants in 50 Families with Spina Bifida ↗

  Journal of the American Society of Nephrology · 2021
  not yet assessed
• Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations ↗

  The American Journal of Human Genetics · 2020 · PMID 32891193
  not yet assessed
• DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation ↗

  The American Journal of Human Genetics · 2020 · PMID 33232676
  not yet assessed
• Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches ↗

  Kidney International Reports · 2020 · PMID 33615071
  not yet assessed
• Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) ↗

  Genetics in Medicine · 2020 · PMID 32475988
  not yet assessed
• Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans ↗

  Nephrology Dialysis Transplantation · 2020 · PMID 33097957
  not yet assessed
• <i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes ↗

  Journal of Medical Genetics · 2020 · PMID 32631816
  not yet assessed
• Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome ↗

  Kidney International Reports · 2020 · PMID 33615072
  not yet assessed
• Copy Number Variation Analysis Increases Diagnostic Yield of Exome Sequencing and Facilitates the Identification of Genetic Causation for Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT) ↗

  Journal of the American Society of Nephrology · 2020
  not yet assessed
• Generation of Monogenic Candidate Genes of Human Nephrotic Syndrome via Three Independent Approaches ↗

  Journal of the American Society of Nephrology · 2020
  not yet assessed
• In the Presence of Genetic Heterogeneity of CAKUT, Whole-Exome Sequencing Establishes a Molecular Genetic Diagnosis in 14% of Cases ↗

  Journal of the American Society of Nephrology · 2020
  not yet assessed
• Whole-Exome Sequencing Identifies Likely Causative Variants in Four Candidate Genes in 16 Families with Spina Bifida ↗

  Journal of the American Society of Nephrology · 2020
  not yet assessed
• Monogenic causes of chronic kidney disease in adults ↗

  Kidney International · 2019 · PMID 30773290
  not yet assessed
• Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients ↗

  Journal of the American Society of Nephrology · 2019 · PMID 30655312
  not yet assessed
• Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome ↗

  Kidney International · 2019 · PMID 31472902
  not yet assessed
• CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations ↗

  The American Journal of Human Genetics · 2019 · PMID 31708116
  not yet assessed
• COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans ↗

  Human Genetics · 2019 · PMID 31230195
  not yet assessed
• Erfarenheter av att vara syskon till ett barn med cancer

  2019
  not yet assessed
• Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract ↗

  Journal of the American Society of Nephrology · 2018 · PMID 30143558
  not yet assessed
• A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux ↗

  PLoS ONE · 2018 · PMID 29351342
  not yet assessed
• Case Report: Dual nebulised antibiotics among adults with cystic fibrosis and chronic Pseudomonas infection ↗

  F1000Research · 2018 · PMID 29560254
  not yet assessed
• Case Report: Dual nebulised antibiotics among adults with cystic fibrosis and chronic Pseudomonas infection [version 2; referees: 1 approved, 2 approved with reservations]

  White Rose Research Online (University of Leeds, The University of Sheffield, University of York) · 2018
  not yet assessed
• A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling ↗

  Journal of the American Society of Nephrology · 2017 · PMID 28381549
  not yet assessed
• Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases ↗

  Pediatric Nephrology · 2017 · PMID 28779239
  not yet assessed
• Case Report: Dual nebulised antibiotics among adults with cystic fibrosis and chronic Pseudomonas infection ↗

  F1000Research · 2017
  not yet assessed
• 191 The potential use of dual nebulised antibiotics for the treatment of pulmonary exacerbations among adults with cystic fibrosis and chronic P. aeruginosa infection ↗

  Journal of Cystic Fibrosis · 2017
  not yet assessed
• CITED4 induces physiologic hypertrophy and promotes functional recovery after ischemic injury ↗

  JCI Insight · 2016 · PMID 27430023
  not yet assessed
• ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract ↗

  International Journal of Pediatrics and Child Health · 2016
  not yet assessed
• Relationship between Exercise Parameters and Noninvasive Indices of Right Ventricular Function in Patients with Biventricular Circulation and Systemic Right Ventricle ↗

  Congenital Heart Disease · 2015 · PMID 25597937
  not yet assessed
• GEOMETRY OF TRICUSPID VALVE INFLOW CORRELATES WITH VENTILATORY EFFICIENCY AND PEAK OXYGEN PULSE IN ADULTS WITH SYSTEMIC RIGHT VENTRICLES AND TRANSPOSITION OF THE GREAT ARTERIES ↗

  Journal of the American College of Cardiology · 2015
  not yet assessed
• Abstract 265: CITED4 Induces Physiologic Hypertrophy and Improves Cardiac Remodeling After Ischemic Injury ↗

  Circulation Research · 2015
  not yet assessed
• Can Exercise Teach Us How to Treat Heart Disease? ↗

  Circulation · 2012 · PMID 23184282
  not yet assessed
• 51 C/EBPβ CONTROLS EXERCISE-INDUCED CARDIAC GROWTH AND PROTECTS AGAINST PATHOLOGICAL CARDIAC REMODELING ↗

  Atherosclerosis Supplements · 2011
  not yet assessed
• C/EBPβ Controls Exercise-Induced Cardiac Growth and Protects against Pathological Cardiac Remodeling ↗

  Cell · 2010 · PMID 21183071
  not yet assessed
• Abstract 12839: Cardiac-Specific Deletion of RhoA Results in the Development of Cardiac Hypertrophy via Effects on the Erk/MAPK and PI3K/Akt pathways

  Circulation · 2010
  not yet assessed
• Abstract 13238: C/ebpb Controls Cardiac Growth During Exercise

  Circulation · 2010
  not yet assessed
• Precise engineering of targeted nanoparticles by using self-assembled biointegrated block copolymers ↗

  Proceedings of the National Academy of Sciences · 2008 · PMID 18272481
  not yet assessed
• Neonatal Thyrotoxicosis ↗

  Proceedings of the Royal Society of Medicine · 1968 · PMID 5645972
  not yet assessed
• Management of Tetanus Neonatorum with Intermittent Positive-pressure Respiration ↗

  Archives of Disease in Childhood · 1963 · PMID 21032414
  not yet assessed
• The treatment and prevention of kwashiorkor. Clinical trial of a new high-protein food supplement. ↗

  PubMed · 1961 · PMID 13913250
  not yet assessed
• Haemolytic disease of the newborn

  South African Medical Journal · 1956
  not yet assessed
• Gastro-Enteritis in Infancy: An Account of 286 Cases Treated in a General Paediatric Hospital ↗

  Archives of Disease in Childhood · 1952 · PMID 12986855
  not yet assessed
• PYLORIC SPASM SIMULATING CONGENITAL HYPERTROPHIC STENOSIS ↗

  The Lancet · 1948 · PMID 18864409
  not yet assessed