Amar J. Majmundar

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.

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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) · 79 not yet assessed — every PubMed paper on record, linked below.

• NPHS2 Revisited Through 208 Cases and Podocin Complex Modeling ↗

  Kidney International Reports · 2026 · PMID 41939217
  not yet assessed
• WCN26-8726 Exome sequencing highlights copy number variants in nephrolithiasis and nephrocalcinosis ↗

  Kidney International Reports · 2026
  not yet assessed
• Real-World Outcomes of a Pediatric Kidney Genetics Clinic ↗

  Kidney360 · 2026
  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
• Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy ↗

  Seminars in Nephrology · 2025 · PMID 40664523
  not yet assessed
• Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele ↗

  Frontiers in Cell and Developmental Biology · 2025 · PMID 40843169
  not yet assessed
• Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025 · PMID 40034645
  not yet assessed
• Next-generation nephrology: part 2—mainstreaming genomics in nephrology, a global perspective ↗

  Pediatric Nephrology · 2025 · PMID 40019555
  not yet assessed
• Proteomic Analysis of TRIM8 Biomolecular Condensates Reveals Proteasome and NFκB Pathways Disrupted in Steroid-Resistant Nephrotic Syndrome/FSGS ↗

  Journal of the American Society of Nephrology · 2025
  not yet assessed
• DACH2: Potential Candidate Gene for Monogenic Steroid-Resistant Nephrotic Syndrome ↗

  Journal of the American Society of Nephrology · 2025
  not yet assessed
• Proteomic Analysis of Podocytopathy Protein NOS1AP Reveals Novel PTPN14 Interaction Disrupted in Disease ↗

  Journal of the American Society of Nephrology · 2025
  not yet assessed
• From Heterogeneity to Precision in Urinary Stone Disease ↗

  Clinical Journal of the American Society of Nephrology · 2025 · PMID 41212624
  not yet assessed
• Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment ↗

  Nature Communications · 2025 · PMID 41309577
  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
• Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes ↗

  Journal of Clinical Investigation · 2024 · PMID 38618964
  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
• Recessive variants in the intergenic <i>NOS1AP-C1orf226</i> locus cause monogenic kidney disease responsive to anti-proteinuric treatment ↗

  medRxiv · 2024 · PMID 38562757
  not yet assessed
• Single-Center Experience in Establishing a Pediatric Kidney Genetics Clinic ↗

  Journal of the American Society of Nephrology · 2024
  not yet assessed
• Recessive Variants in the Intergenic NOS1AP-C1orf226 Locus Cause Monogenic Kidney Disease ↗

  Journal of the American Society of Nephrology · 2024
  not yet assessed
• Nephrotic Syndrome-Associated Variants Dysregulate TRIM8 Functions in Biomolecular Condensates, Cell Adhesion, and Glomerular Injury ↗

  Journal of the American Society of Nephrology · 2024
  not yet assessed
• Monogenic Causes of Kidney Stone Formation from the Perspectives of Mineral Pathophysiology, Clinical Presentation, and Treatment ↗

  SSRN Electronic Journal · 2023
  not yet assessed
• Nephrotic Syndrome-Associated TRIM8 Variants Impair the Proteasome-Dependent Turnover and Condensation of TRIM8 Protein ↗

  Journal of the American Society of Nephrology · 2023
  not yet assessed
• Comprehensive Genetic Analysis Reveals Novel Variants in Nephrolithiasis and Nephrocalcinosis ↗

  Journal of the American Society of Nephrology · 2023
  not yet assessed
• Recessive Variants in NEK1 and NEK8 Are Associated with Cystic Kidney and Kidney Stone Disease ↗

  Journal of the American Society of Nephrology · 2023
  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
• OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis ↗

  Genetics in Medicine · 2022 · PMID 36571463
  not yet assessed
• A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner ↗

  The Journal of Clinical Endocrinology & Metabolism · 2022 · PMID 35137152
  not yet assessed
• Activation of 2‐oxoglutarate receptor 1 (<scp>OXGR1</scp>) by α‐ketoglutarate (<scp>αKG</scp>) does not detectably stimulate Pendrin‐mediated anion exchange in <i>Xenopus</i> oocytes ↗

  Physiological Reports · 2022 · PMID 35851763
  not yet assessed
• Discovery of a Novel Podocyte Complex of Nephrotic Syndrome Disease Protein NOS1AP and Dystroglycan Complex (DGC) Component SNTA1 ↗

  Journal of the American Society of Nephrology · 2022
  not yet assessed
• OXGR1 Is a Candidate Disease Gene for Human Calcium Oxalate Nephrolithiasis ↗

  Journal of the American Society of Nephrology · 2022
  not yet assessed
• FVB/N-Nos1apEx3-/Ex3- Mice Develop Severe Glomerular Kidney Disease, Which Is Ameliorated by Antiproteinuric Treatment ↗

  Journal of the American Society of Nephrology · 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
• A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features ↗

  Genetics in Medicine · 2021 · PMID 33531666
  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
• Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression ↗

  Scientific Reports · 2021 · PMID 34521872
  not yet assessed
• Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis ↗

  BMC Medical Genomics · 2021 · PMID 34772415
  not yet assessed
• Discovery of Podocyte-Specific Interaction Partners of the Nephrotic Syndrome-Associated Protein NOS1AP ↗

  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
• 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
• Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome ↗

  Kidney International Reports · 2020 · PMID 33615072
  not yet assessed
• Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered <i>Myc</i> expression ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 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
• Recessive Mutations in SEMA3G as a Potential Novel Cause of Nephrotic Syndrome ↗

  Journal of the American Society of Nephrology · 2020
  not yet assessed
• Whole-Exome Sequencing Reveals a Monogenic Cause of Disease in 23.1% of 276 Families with Steroid-Resistant Nephrotic Syndrome ↗

  Journal of the American Society of Nephrology · 2020
  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
• Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis ↗

  Kidney International · 2019 · PMID 31959358
  not yet assessed
• Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies ↗

  Pediatric Rheumatology · 2019 · PMID 31362757
  not yet assessed
• Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis ↗

  Human Genetics · 2019 · PMID 30778725
  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
• Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout ↗

  Kidney International · 2019 · PMID 31010479
  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
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ↗

  Journal of Clinical Investigation · 2018 · PMID 30179222
  not yet assessed
• Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ↗

  Nature Communications · 2018 · PMID 29773874
  not yet assessed
• Mutations in <i>WDR4</i> as a new cause of Galloway–Mowat syndrome ↗

  American Journal of Medical Genetics Part A · 2018 · PMID 30079490
  not yet assessed
• GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome ↗

  Journal of the American Society of Nephrology · 2018 · PMID 29959197
  not yet assessed
• Genetic variants in the <i>LAMA5</i> gene in pediatric nephrotic syndrome ↗

  Nephrology Dialysis Transplantation · 2018 · PMID 29534211
  not yet assessed
• Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model ↗

  PLoS ONE · 2018 · PMID 29346415
  not yet assessed
• Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children ↗

  Nephrology Dialysis Transplantation · 2018 · PMID 30295827
  not yet assessed
• Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome ↗

  Clinical Journal of the American Society of Nephrology · 2017 · PMID 29127259
  not yet assessed
• Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis ↗

  Kidney International · 2017 · PMID 28893421
  not yet assessed
• HIF modulation of Wnt signaling regulates skeletal myogenesis<i>in vivo</i> ↗

  Development · 2015 · PMID 26153230
  not yet assessed
• HIF modulation of Wnt signaling regulates skeletal myogenesis <i>in vivo</i> ↗

  Journal of Cell Science · 2015
  not yet assessed
• Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes ↗

  Journal of Clinical Investigation · 2012 · PMID 22426208
  not yet assessed
• O₂ Regulates Skeletal Muscle Progenitor Differentiation through Phosphatidylinositol 3-Kinase/AKT Signaling ↗

  Molecular and Cellular Biology · 2011 · PMID 22006022
  not yet assessed
• Oxygen- and Hif1alpha-dependent regulation of skeletal muscle progenitor differentiation and skeletal muscle regeneration

  Scholarly Commons (University of Pennsylvania) · 2011
  not yet assessed
• Hypoxia-Inducible Factors and the Response to Hypoxic Stress ↗

  Molecular Cell · 2010 · PMID 20965423
  not yet assessed
• Hemodynamic and metabolic diffuse optical monitoring in a mouse model of hindlimb ischemia ↗

  Biomedical Optics Express · 2010 · PMID 21258539
  not yet assessed
• Diffuse Optical Perfusion and Oxygenation Monitoring in a Mouse Model of Hindlimb Ischemia ↗

  2010
  not yet assessed
• HIF2α inhibition promotes p53 pathway activity, tumor cell death, and radiation responses ↗

  Proceedings of the National Academy of Sciences · 2009 · PMID 19706526
  not yet assessed
• Epigenetic downregulation of the DNA repair gene MED1/MBD4 in colorectal and ovarian cancer ↗

  Cancer Biology & Therapy · 2009 · PMID 19127118
  not yet assessed
• Successful therapy with omalizumab for imported fire ant anaphylaxis ↗

  Journal of Allergy and Clinical Immunology · 2005
  not yet assessed
• Combined millimeter wave and cyclophosphamide therapy of an experimental murine melanoma ↗

  Bioelectromagnetics · 2004 · PMID 15376243
  not yet assessed
• A 10-year experience with Steven Johnson syndrome and toxic epidermal necrolysis at a tertiary burn center ↗

  Journal of Allergy and Clinical Immunology · 2004
  not yet assessed