Published online Jul 28, 2026. doi: 10.5528/wjtm.122755
Revised: June 14, 2026
Accepted: July 8, 2026
Published online: July 28, 2026
Processing time: 93 Days and 14 Hours
Hematuria is one of the most common reasons for urological consultation, with microhematuria affecting 2.4%-31.1% of healthy volunteers depending on the population studied. For the urologist, identifying a glomerular source is the critical first step in determining the need for nephrology referral. This review provides a clinically structured approach to hematuria evaluation with an em
Core Tip: This review challenges the traditional perception of isolated hematuria as benign by emphasizing the critical role of genetic testing in precision nephrology. We propose a practical traffic-light framework to guide test ordering, enabling clinicians to recognize glomerular hematuria needing nephrology referral, select between targeted panels and whole-exome sequencing, and incorporate pre-test counselling in busy practice. The approach integrates cascade screening, underscores the impact of molecular diagnosis on immunosuppression, and addresses safeguarding living-related donors through genetic evaluation. By bridging urology and nephrology, it supports personalized care, avoids invasive procedures, enables early nephroprotection, and improves prognostication in hereditary kidney disease overall outcomes.
- Citation: Bashyam S, Shankar M. Beyond the bladder: Recognising glomerular hematuria and the role of genetic testing in clinical practice. World J Transl Med 2026; 12(2): 122755
- URL: https://www.wjgnet.com/2220-6132/full/v12/i2/122755.htm
- DOI: https://dx.doi.org/10.5528/wjtm.122755
Hematuria is one of the commonest urologic diagnoses, accounting for about one fifth of urologist consultations[1]. Depending on the population, screening studies have estimated a prevalence range of microhematuria among healthy volunteers to be 2.4%-31.1%[2]. Prevalence of genetic causes in individuals with microhematuria varies significantly depending on the population being studied.
The 2012 American Urological Association guidelines recommended cystoscopy and computed tomography urography for all patients over 35 years presenting with microhematuria. Although this approach carried the least risk of missing a malignancy diagnosis, it posed a higher risk of over-evaluation and increased healthcare cost. The 2020 American Urological Association guideline introduced an individualized risk-stratified approach to microhematuria evaluation. The 2025 amendment further refines this framework by operationally defining microhematuria as ≥ 3 red blood cells per high power field on a formal microscopic evaluation and not just dipstick positivity. It is also important to note that presence of features suggesting medical renal disease like co-existing proteinuria, dysmorphic red blood cells, cellular casts or renal insufficiency does not automatically remove the need for urological evaluation[3].
This review is intended for physicians encountering patients with persistent unexplained hematuria in outpatient practice. It provides a clinically structured framework for recognizing glomerular source, need for nephrology referral and understand when genetic testing may alter diagnosis or management of the patient. It does not aim to replace urological evaluation for urothelial malignancy but complement it by addressing the subset of patients in whom glomerular cause is likely.
Urine color: Glomerular hematuria often presents as tea-colored, cola-colored, or smoky urine, whereas lower urinary tract bleeding is typically bright red[4].
Absence of clots: The presence of blood clots usually points to a non-glomerular, post-renal source (e.g., bladder or kidney tumors); their absence is more consistent with a glomerular origin.
Lack of pain: Glomerular bleeding is typically painless and occurs in the absence of dysuria or loin pain, which are more common in urological conditions such as infections or stones.
Triggering events: Macroscopic (visible) hematuria coinciding with an upper respiratory tract infection (synpharyngitic hematuria) is a classic hallmark of glomerular diseases such as IgA nephropathy or complement factor H-related 5 nephropathy[5].
Dysmorphic erythrocytes: Examination of urine using phase-contrast microscopy is a vital tool. Finding dysmorphic red blood cells suggests morphological changes in the membranes as red blood cells traverse the glomerular filtration barrier and different segments of the renal tubules.
Urinary casts: The presence of red blood cell casts or cellular casts is highly specific for glomerular disease[6].
Glomerular origin of hematuria is supported by any of the following on urine microscopy > 5% acanthocytes (G1 cells) among urinary red blood cells, or the presence of red blood cell casts.
Proteinuria: The presence of significant protein in the urine [e.g., albumin-creatinine ratio > 30 mg/mmol (> 300 mg/g) or protein-creatinine ratio > 50 mg/mmol (> 500 mg/g)] is a major indicator of glomerular disease.
Renal insufficiency: Elevated serum creatinine or cystatin C, leading to a decreased estimated glomerular filtration rate, suggests a glomerular or parenchymal cause[7].
Hypertension: The presence of elevated blood pressure in a patient with hematuria increases the likelihood of an underlying renal or glomerular etiology.
Age: While adults frequently require urological evaluation to exclude malignancy or renal stones, hematuria in children and adolescents most often arises from the glomeruli[8].
Family history: A family history of kidney failure, dialysis, or transplantation should immediately raise suspicion for a hereditary glomerular condition[4].
Before proceeding with further investigation, transient causes of hematuria - such as vigorous exercise, menstruation or urinary tract infection - should be actively considered and excluded. Where any such cause is suspected, a repeat urine analysis after 48-72 hours is recommended.
When glomerular disease is strongly suspected, nephrology referral is recommended to differentiate between immune-mediated and hereditary glomerular causes to guide decisions regarding renal biopsy and/or genetic testing. In cases where a hereditary etiology is clinically likely the nephrologist may initiate pre-test counselling and genetic testing (Table 1).
| Renal diagnosis | Urine findings (hematuria and proteinuria) | Systemic/extra-renal features | Family history | Suggested next step |
| Primary glomerulonephritis | ||||
| IgA nephropathy | Microhematuria ± episodic macroscopic hematuria (synpharyngitic); mild-moderate proteinuria | Nil specific; often follows upper respiratory tract infection | May be positive | Nephrology referral; urine ACR; serum creatinine/eGFR |
| Thin basement membrane nephropathy | Persistent microhematuria; proteinuria absent or trace | Nil | Positive - first-degree relatives with hematuria | Nephrology referral; genetic testing (COL4A3/COL4A4) if proteinuria or eGFR decline develops |
| Alport syndrome (X-linked/AR/AD) | Persistent microhematuria + proteinuria; RBC casts possible | Sensorineural hearing loss; anterior lenticonus; macular flecks | Strongly positive - renal failure, dialysis, or transplant in family | Nephrology referral; genetic testing (COL4A3/ COL4A4/COL4A5); audiology; ophthalmology review |
| FSGS | Microhematuria + significant proteinuria (nephrotic range possible) | Nephrotic syndrome, hypertension | May be positive (genetic FSGS) | Nephrology referral; urine PCR/ACR; renal biopsy likely needed |
| Membranous nephropathy | Microhematuria + sub-nephrotic proteinuria | Nephrotic syndrome and/or thromboembolic events | Usually, negative | Nephrology referral; anti-PLA2R antibody; urine ACR |
| Mesangioproliferative GN | Persistent microhematuria + proteinuria | Nil specific | Usually, negative | Nephrology referral; urine ACR; serum creatinine/eGFR; complement levels |
| CFHR5 nephropathy | Persistent microhematuria ± synpharyngitic macroscopic hematuria; mild proteinuria | Nil specific | Strongly positive | Nephrology referral; complement studies; genetic testing (CFHR5) |
| Secondary glomerulonephritis | ||||
| Lupus nephritis (SLE) | Microhematuria + proteinuria + RBC casts | Malar rash; arthritis; serositis; oral ulcers; photosensitivity; pancytopenia, organomegaly, lymphadenopathy, hypertension | May be positive | Nephrology referral; ANA, anti-dsDNA, complement (C3/C4) |
| ANCA-associated Vasculitis (GPA/MPA) | Microhematuria + proteinuria; RBC casts; rapidly declining eGFR | Sinusitis; hemoptysis; pulmonary infiltrates; purpura | Usually, negative | Urgent nephrology referral; ANCA (PR3/MPO); chest imaging |
| Anti-GBM disease | Macroscopic or microscopic hematuria + heavy proteinuria; RBC casts | Hemoptysis; rapidly progressive renal failure | Usually, negative | Emergency nephrology referral; anti-GBM antibody; CXR |
| IgA vasculitis | Microhematuria ± proteinuria | Palpable purpura (lower limbs/buttocks); arthralgia; colicky abdominal pain | Usually, negative | Nephrology referral; clinical diagnosis; urine monitoring |
| Post-infectious glomerulonephritis | Macroscopic or microscopic hematuria + proteinuria; RBC casts; oliguria | Preceding streptococcal throat or skin infection (1-3 weeks prior) | Usually, negative | Nephrology referral; ASO titre; C3 (low); C4 (normal) |
| Complement-mediated | ||||
| C3 glomerulopathy (C3GN/DDD) | Microhematuria + proteinuria; RBC casts | Nil specific; lipodystrophy in DDD | May be positive (complement gene variants) | Nephrology referral; C3/C4; complement factor H; genetic complement panel |
| Atypical HUS | Hematuria + proteinuria; rapidly falling eGFR | Thrombocytopenia; microangiopathic hemolytic anemia; hypertension | May be positive (CFH, CFI gene variants) | Emergency nephrology referral; FBC; LDH; complement studies |
| Hereditary/genetic | ||||
| ADPKD | Micro or macroscopic hematuria; proteinuria mild or absent | Flank pain; hypertension; enlarged kidneys; hepatic cysts | Strongly positive - autosomal dominant pattern | Renal ultrasound; nephrology referral; PKD1/PKD2 genetic testing if required |
| Congenital anomalies of kidney and urinary tract | Microhematuria; proteinuria variable | Structural anomaly on imaging; recurrent UTIs | May be positive | Renal ultrasound; nephrology referral; genetic testing if syndromic |
| Tubulointerstitial | ||||
| AIN | Microhematuria + mild proteinuria; eosinophiluria (variable) | Drug exposure (NSAIDs, antibiotics, PPIs); fever; rash; rising creatinine | Usually, negative | Nephrology referral; stop offending drug; urgent review if creatinine rising |
| Oxalate nephropathy | Microhematuria + oxalate crystals on urinalysis; mild proteinuria | High oxalate diet; bariatric surgery history; prior jejunoileal bypass | May be positive (primary hyperoxaluria) | Nephrology referral; 24-hour urine oxalate; genetic testing if primary hyperoxaluria suspected |
Genetic study can clinch a diagnosis, especially in cases with isolated microhematuria. When there is strong clinical suspicion, genetic testing can help avoid invasive procedures such as kidney biopsy[9]. A molecular diagnosis can be identified in approximately one in ten individuals with unexplained chronic kidney disease (CKD)[10].
From a nephrologist’s perspective, genetic studies can alter diagnosis and hence treatment. A case of steroid-resistant focal segmental glomerulosclerosis may be reclassified as Alport syndrome, fundamentally changing the line of management[11]. Lata et al[12] in 2018 identified a causative variant with whole-exome sequencing (WES) in 9 of 16 cases of CKD with unknown etiology.
Historically, isolated microhematuria was considered benign; however, it is now recognized to be associated with a risk of kidney failure in the long term. Studies have demonstrated that members of families with heterozygous collagen type IV alpha 3 chain (COL4A3)/collagen type IV alpha 4 chain (COL4A4) mutations with thin basement membrane nephropathy, or those with complement factor H-related 5 nephropathy, have a higher probability of progressing to end-stage renal disease (ESRD)[13-16].
Genetic and acquired forms of kidney disease can have different prognoses. Even in already-diagnosed cases, knowing the genetics can help predict disease course. For example, in X-linked Alport syndrome, truncating mutations prevent synthesis of full-length protein and are associated with earlier disease onset compared with non-truncating variants[17]. Prognostication is not limited to renal manifestations but also encompasses extra-renal features.
Studies have demonstrated that initiating renin - angiotensin system (RAS) blockade using angiotensin-converting enzyme inhibitors or angiotensin receptor blockers in Alport syndrome can delay the onset of renal failure and improve survival[18,19]. A genetic mutation predisposing to atypical hemolytic uremic syndrome may provide a crucial therapeutic opportunity with monoclonal antibodies targeting the complement system[20].
By identifying a pathogenic variant in the index case, cascade testing of asymptomatic relatives becomes possible[21,22]. Knowledge of the mode of transmission of a particular variant can assist in pregnancy planning and inform understanding of familial risk.
Genetic testing within the family helps exclude disease-causing variants in prospective living-related donors. It has been demonstrated that a female who is a carrier of X-linked Alport syndrome has a higher likelihood of developing renal dysfunction later in life due to random X-inactivation[23,24].
Genetic etiologies account for 10%-15% of adult ESRD and approximately 70% of childhood ESRD[25,26].
Concomitant occurrence of hematuria - especially glomerular hematuria - strongly suggests a familial cause and makes a case for genetic testing[13,27]. A history of dialysis or renal transplantation in the family of a patient with hematuria may suggest Alport syndrome and warrants genetic testing[27]. It is noteworthy that 10%-15% of patients with Alport syndrome may not have a positive family history[28].
Many genetic kidney disorders are systemic and present with extra-renal manifestations: Late-onset bilateral high-frequency sensorineural hearing loss, anterior lenticonus, perimacular retinal flecks, or posterior sub-capsular cataract in Alport syndrome[21,29]. Esophageal, tracheobronchial, or genital leiomyomas in X-linked Alport syndrome[30]. Macrothrombocytopenia, congenital cataract, and sensory hearing loss as part of myosin heavy chain 9 related disorders[31].
As noted above, genetic causes are more prevalent in childhood renal diseases. Although presentation may occur later, the onset of disease is often much earlier, as in familial hematuria, which typically develops in early childhood and persists throughout life[32].
Genetic testing should be recommended in the following clinical scenarios: (1) High clinical suspicion of familial glomerular hematuria; (2) Evaluation of potential living kidney donors in the affected family[33]; (3) Cascade testing after index case identification[4]; (4) Pediatric CKD - when other causes are excluded; and (5) Extra-renal manifestations suggesting a genetic syndrome even in the absence of family history (Figure 1).
Genetic testing should be considered in the following clinical scenarios: (1) CKD of unknown origin[10]; (2) Reclassification of atypical phenotypes[4]; (3) Atypical glomerular hematuria - unexplained, not supported by family history or extra-renal manifestations[34,35]; (4) Congenital anomalies of the kidney and urinary tract; and (5) Child with dominantly inherited isolated glomerular hematuria and absence of kidney failure in family, suggesting thin basement membrane nephropathy (Figure 1)[27].
The following clinical scenarios are not situations where genetic testing is the preferred first-line diagnostic approach: (1) Non-glomerular hematuria on urine microscopy; (2) Positive dipstick alone, without confirmatory microscopic urine analysis; and (3) Definitive alternate diagnosis already established. In this setting, the priority is to confirm that genuine, persistent glomerular hematuria is present before ordering genetic testing (Figure 1).
The choice between a targeted next generation sequencing (NGS) panel and WES depends largely on the specificity of the patient’s clinical presentation and the reason for testing.
Targeted panels analyse a predetermined set of genes (typically 3 to 250) known to be associated with a specific clinical phenotype[36,37].
Specific clinical suspicion: NGS panel is the most appropriate first-line test when a specific diagnosis is suspected (e.g., Alport syndrome, autosomal dominant polycystic kidney disease)[38].
Superior sensitivity: NGS panels have higher sequencing coverage and depth for specified target regions[39].
Reduced incidental findings: As only pre-selected genes are analyzed, incidental findings are unlikely[10,40].
Turnaround time: Targeted panels have faster turnaround (10-21 days) and lower cost[38].
When a patient’s symptoms are associated with a wide range of genetic causes (e.g., steroid-resistant nephrotic syndrome with 50+ associated genes), a broad NGS panel is a reasonable middle ground between a narrow panel and a full exome[36].
WES captures nearly all protein-coding regions in the human genome (approximately 20000 genes), allowing a broad search for pathogenic variants[38].
Unexplained phenotypes: Whenever the etiology of disease is unknown or clinical features are non-specific, WES is the preferred option[41].
Genetic heterogeneity: For conditions left undiagnosed by targeted panels, WES provides higher sensitivity by assessing the entire coding sequence.
Exome backbone: Many NGS panels are built on an exome backbone, allowing the laboratory to unmask additional gene sets if targeted sequencing is negative for pathogenic variants[42].
Future re-analysis: WES data can be stored and periodically reanalyzed as new disease-causing genes are discovered or as variants of uncertain significance (VUS) are reclassified[43].
Increased diagnostic yield: WES increases diagnostic yield from approximately 20% (by targeted gene panels) to 30%[9].
Secondary findings: Unrelated to the primary testing indication, WES can identify other actionable conditions[44].
However, exome sequencing is technically blind to genes with high sequence homology, such as polycystic kidney disease 1, and does not target intronic regions[45]. This limitation can be addressed by requesting whole-genome sequencing (WGS)[46,47]. Well designed targeted panels are now available with good sensitivity to be used as the primary diagnostic test. For suspected Alport/collagen type IV alpha disease, current expert guidance recommends joint targeted analysis of all three collagen type IV alpha genes [COL4A3, COL4A4, collagen type IV alpha 5 chain (COL4A5)] as the key first-line test. This approach can identify up to 85%-95% of pathogenic variants in Alport syndrome, though deep intronic/structural variants may still be missed[48].
Although genome-wide tests such as WES/WGS are expected to report more VUS than targeted NGS panels, a large analysis of 1.5 million genetic test reports from 19 clinical laboratories found a higher VUS rate in targeted panels than in WGS/WES. This is attributed to reporting protocols: While targeted panel’s report all variants present, WES/WGS reports only highly compelling VUS[49].
When a familial mutation is known, Sanger sequencing is a highly accurate and cost-effective method to detect single nucleotide variants. Multiplex ligation-dependent probe amplification is designed to identify copy number variants, such as small deletions or duplications. Fluorescent in situ hybridization visualizes structural variants. Chromosomal microarray, similar to multiplex ligation-dependent probe amplification, detects copy number variants but provides genome-wide detection and is the test of choice in patients with congenital anomalies of the kidney and urinary tract[38].
Once the red flags are identified and the test is chosen, it is the treating physician’s or surgeon’s responsibility to provide pre-test counselling. This typically begins with a brief conversation addressing the “why”, the “what”, and the “so what” of testing (Table 2)[50].
| Counselling topic | Standard patient-facing counselling script |
| Why the test is being done? | This test looks for differences in your genes that can cause kidney disease. We are checking these differences to see if they can explain your symptoms and help us determine best way to care for you |
| What the results may show? | |
| Positive - pathogenic/Likely pathogenic | This means we found a genetic difference that causes disease and explains your condition |
| Negative - benign/Likely benign | This means no known disease- causing difference was found. It doesn't always rule out a genetic cause, but we didn’t find one today |
| Inconclusive | We found a genetic difference, but we aren’t sure yet if it’s the cause of the disease or just a normal variation |
| So what’s next? How it affects treatment or family | Finding a genetic cause can change your treatment plan, such as suggesting different medication or extra screenings. Because this condition runs in the family it may also help us identify if your relatives are at risk |
While clinicians can order genetic testing, certain scenarios warrant a referral to genetic services.
Complex pedigree and family dynamics: If a three-generation pedigree reveals complex inheritance patterns or if there are barriers to sharing health information with at-risk relatives[51,52].
Reproductive counselling: If the patient is interested in pre-pregnancy or prenatal genetic screening to understand the risk to future children[53-55].
Transplant and donor decisions: Genetic testing is critical when evaluating living-related donors, with important implications for a relative’s eligibility to donate and potential insurance consequences[50].
VUS reclassification: When an inconclusive result strongly matches the patient’s clinical presentation, a genetic counsellor can coordinate variant reclassification through family segregation or functional analysis[56].
Secondary findings: Clinically significant genetic variants identified unintentionally during testing, unrelated to the primary indication.
Psychosocial support: Patients with significant concerns about genetic discrimination or who require coping strategies for a new genetic diagnosis. Potential emotional distress and guilt about a heritable condition can be amplified by complex family dynamics, necessitating support from a qualified genetic counsellor[50].
Legal requirements: In the United States, the Genetic Information Non-discrimination Act prohibits discrimination by employers and health insurers on the basis of genetic information. However, Genetic Information Non-discrimination Act’s protections do not extend to life insurance, disability insurance or long-term care insurance and patients should be counselled accordingly before testing[57-60].
Treatment for genetic causes of hematuria is increasingly focused on precision medicine. Depending on the underlying molecular defect, targeted therapy is available in selected diseases such as complement component 3 glomerulopathy and atypical hemolytic uremic syndrome[20]. Conversely, reclassifying the diagnosis may allow transition to less aggressive nephroprotective regimens to delay disease progression.
For confirmed COL4A3-COL4A5 variants, early pharmacological intervention with a renin-angiotensin system inhibitor has been shown to extend life expectancy, delay onset of kidney failure[18], and optimize blood pressure and proteinuria control. In a patient previously diagnosed with steroid-resistant nephrotic syndrome, a re-diagnosis spares the patient the adverse effects of prolonged immunosuppression.
A genetic diagnosis also provides an opportunity to screen for extra-renal manifestations, including audiological examination and slit-lamp evaluation in Alport syndrome[28,61].
Preventing invasive workups: A confirmed molecular diagnosis in the family enables at-risk relatives to be screened non-invasively. This can obviate the need for repeated kidney biopsies or unnecessary urological investigations, such as cystoscopy, in family members presenting with similar hematuria[14].
Early detection: Cascade testing allows identification of asymptomatic relatives who remain at high risk for progressive disease, ensuring they are placed on monitoring and preventive therapy early[50].
Identifying high-risk donors: For potential living-related donors in families affected by hereditary glomerulopathy, clinicians must determine the exact genotype before considering donation[33]. According to the 2024 ERKNet/ERA/ESPN Alport guideline, relatives who carry a heterozygous pathogenic or likely pathogenic variant in COL4A3, COL4A4, or COL4A5 should be considered as kidney donors only as a last resort, when no non-carrier donor is available. Donation is not advisable in any carrier under the age of 40 years, or at any age if the donor demonstrates albuminuria, reduced estimated glomerular filtration rate, or evidence of histologic kidney damage on biopsy[48,62].
Role of kidney biopsy: While kidney biopsy may be informative in selected cases, particularly to detect subclinical nephropathy in a carrier being considered for donation, it is not mandatory for all carriers and should be used judiciously as an adjunct to genetic and functional assessment[48,62].
Hematuria remains a common and often anxiety-provoking presentation in clinical practice, but a structured, stepwise approach can reliably distinguish glomerular from non-glomerular causes without resorting to unnecessary invasive testing. Recognizing the clinical, microscopic, and laboratory clues of a glomerular source - and pairing this with a careful family history - allows the physician to identify which patients truly warrant nephrology referral and genetic evaluation. As precision medicine matures, genetic testing has moved from a research tool to a practical clinical instrument capable of confirming diagnoses, reclassifying disease, guiding therapy, informing prognosis, and protecting both patients and potential living donors. The traffic-light framework and counselling principles outlined here are intended to help the busy physician navigate this expanding landscape confidently, ensuring that genetic testing is ordered judiciously, interpreted appropriately, and acted upon in close collaboration with nephrology and genetic counselling services. Ultimately, a multidisciplinary approach - bridging urology, nephrology, and clinical genetics - offers the best op
| 1. | McDonald MM, Swagerty D, Wetzel L. Assessment of microscopic hematuria in adults. Am Fam Physician. 2006;73:1748-1754. [PubMed] |
| 2. | Davis R, Jones JS, Barocas DA, Castle EP, Lang EK, Leveillee RJ, Messing EM, Miller SD, Peterson AC, Turk TM, Weitzel W; American Urological Association. Diagnosis, evaluation and follow-up of asymptomatic microhematuria (AMH) in adults: AUA guideline. J Urol. 2012;188:2473-2481. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 270] [Cited by in RCA: 278] [Article Influence: 19.9] [Reference Citation Analysis (0)] |
| 3. | Barocas DA, Lotan Y, Matulewicz RS, Raman JD, Westerman ME, Kirkby E, Pak LJ, Souter L. Updates to Microhematuria: AUA/SUFU Guideline (2025). J Urol. 2025;213:547-557. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 32] [Cited by in RCA: 26] [Article Influence: 26.0] [Reference Citation Analysis (0)] |
| 4. | Kashtan CE. Genetic testing and glomerular hematuria-A nephrologist's perspective. Am J Med Genet C Semin Med Genet. 2022;190:399-403. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 1] [Cited by in RCA: 7] [Article Influence: 1.8] [Reference Citation Analysis (0)] |
| 5. | Chan MM, Gale DP. Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century. Clin Med (Lond). 2015;15:576-580. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 7] [Cited by in RCA: 10] [Article Influence: 0.9] [Reference Citation Analysis (0)] |
| 6. | Birch DF, Fairley KF. Haematuria: glomerular or non-glomerular? Lancet. 1979;2:845-846. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 113] [Cited by in RCA: 98] [Article Influence: 2.1] [Reference Citation Analysis (0)] |
| 7. | Inker LA, Eneanya ND, Coresh J, Tighiouart H, Wang D, Sang Y, Crews DC, Doria A, Estrella MM, Froissart M, Grams ME, Greene T, Grubb A, Gudnason V, Gutiérrez OM, Kalil R, Karger AB, Mauer M, Navis G, Nelson RG, Poggio ED, Rodby R, Rossing P, Rule AD, Selvin E, Seegmiller JC, Shlipak MG, Torres VE, Yang W, Ballew SH, Couture SJ, Powe NR, Levey AS; Chronic Kidney Disease Epidemiology Collaboration. New Creatinine- and Cystatin C-Based Equations to Estimate GFR without Race. N Engl J Med. 2021;385:1737-1749. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 3522] [Cited by in RCA: 3383] [Article Influence: 676.6] [Reference Citation Analysis (5)] |
| 8. | Yap HK, Lau PYW. Hematuria and Proteinuria. In: Geary DF, Schaefer F. Comprehensive Pediatric Nephrology. Philadelphia: Mosby, 2008: 179-193. [DOI] [Full Text] |
| 9. | Wilson PC, Love-Gregory L, Corliss M, McNulty S, Heusel JW, Gaut JP. Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease. Kidney360. 2020;1:772-780. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 4] [Cited by in RCA: 14] [Article Influence: 2.3] [Reference Citation Analysis (0)] |
| 10. | Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med. 2019;380:142-151. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 326] [Cited by in RCA: 581] [Article Influence: 83.0] [Reference Citation Analysis (4)] |
| 11. | de Haan A, Eijgelsheim M, Vogt L, Knoers NVAM, de Borst MH. Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology. Front Genet. 2019;10:1264. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 24] [Cited by in RCA: 29] [Article Influence: 4.1] [Reference Citation Analysis (0)] |
| 12. | Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG. Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. Ann Intern Med. 2018;168:100-109. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 121] [Cited by in RCA: 171] [Article Influence: 21.4] [Reference Citation Analysis (0)] |
| 13. | Gale DP. How benign is hematuria? Using genetics to predict prognosis. Pediatr Nephrol. 2013;28:1183-1193. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 25] [Cited by in RCA: 25] [Article Influence: 1.9] [Reference Citation Analysis (0)] |
| 14. | Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet. 2014;86:252-257. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 90] [Cited by in RCA: 114] [Article Influence: 8.8] [Reference Citation Analysis (0)] |
| 15. | Deltas C, Pierides A, Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013;28:2946-2960. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 46] [Cited by in RCA: 59] [Article Influence: 4.5] [Reference Citation Analysis (0)] |
| 16. | Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant. 2009;24:1464-1471. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 66] [Cited by in RCA: 72] [Article Influence: 4.2] [Reference Citation Analysis (0)] |
| 17. | Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010;21:876-883. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 152] [Cited by in RCA: 212] [Article Influence: 13.3] [Reference Citation Analysis (0)] |
| 18. | Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; Study Group Members of the Gesellschaft für Pädiatrische Nephrologie, Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2012;81:494-501. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 210] [Cited by in RCA: 272] [Article Influence: 18.1] [Reference Citation Analysis (0)] |
| 19. | Yamamura T, Horinouchi T, Nagano C, Omori T, Sakakibara N, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Takeda H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Ninchoji T, Kaito H, Morisada N, Iijima K, Nozu K. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int. 2020;98:1605-1614. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 31] [Cited by in RCA: 86] [Article Influence: 14.3] [Reference Citation Analysis (0)] |
| 20. | Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V; French Study Group for aHUS/C3G. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol. 2012;8:643-657. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 432] [Cited by in RCA: 378] [Article Influence: 27.0] [Reference Citation Analysis (0)] |
| 21. | Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11:649-657. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 359] [Cited by in RCA: 389] [Article Influence: 15.0] [Reference Citation Analysis (0)] |
| 22. | Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J. Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. Pediatr Nephrol. 2021;36:2719-2730. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 9] [Cited by in RCA: 38] [Article Influence: 7.6] [Reference Citation Analysis (0)] |
| 23. | Eberhard OK, Kliem V, Offner G, Oldhafer K, Fangmann J, Pichlmay R, Koch KM, Brunkhorst R. Assessment of long‐term risks for living related kidney donors by 24‐h blood pressure monitoring and testing for microalbuminuria. Clin Transplant. 1997;11:415-419. [PubMed] [DOI] [Full Text] |
| 24. | Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017;92:796-808. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 34] [Cited by in RCA: 46] [Article Influence: 5.1] [Reference Citation Analysis (0)] |
| 25. | Vivante A, Hildebrandt F. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol. 2016;12:133-146. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 211] [Cited by in RCA: 260] [Article Influence: 26.0] [Reference Citation Analysis (0)] |
| 26. | Bassanese G, Wlodkowski T, Servais A, Heidet L, Roccatello D, Emma F, Levtchenko E, Ariceta G, Bacchetta J, Capasso G, Jankauskiene A, Miglinas M, Ferraro PM, Montini G, Oh J, Decramer S, Levart TK, Wetzels J, Cornelissen E, Devuyst O, Zurowska A, Pape L, Buescher A, Haffner D, Marcun Varda N, Ghiggeri GM, Remuzzi G, Konrad M, Longo G, Bockenhauer D, Awan A, Andersone I, Groothoff JW, Schaefer F. The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results. Orphanet J Rare Dis. 2021;16:251. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 12] [Cited by in RCA: 47] [Article Influence: 9.4] [Reference Citation Analysis (0)] |
| 27. | Kashtan CE. Familial hematuria. Pediatr Nephrol. 2009;24:1951-1958. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 32] [Cited by in RCA: 35] [Article Influence: 2.1] [Reference Citation Analysis (0)] |
| 28. | Taylor J, Flinter F. Familial haematuria: when to consider genetic testing. Arch Dis Child. 2014;99:857-861. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 10] [Cited by in RCA: 7] [Article Influence: 0.6] [Reference Citation Analysis (0)] |
| 29. | Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. Kidney Int. 2014;85:1208-1213. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 53] [Cited by in RCA: 69] [Article Influence: 5.3] [Reference Citation Analysis (0)] |
| 30. | Antignac C, Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol. 1996;117:172-182. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 29] [Cited by in RCA: 13] [Article Influence: 1.2] [Reference Citation Analysis (0)] |
| 31. | Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N; French MYH9 networka. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. Mol Genet Genomic Med. 2014;2:297-312. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 63] [Cited by in RCA: 83] [Article Influence: 6.9] [Reference Citation Analysis (0)] |
| 32. | Deltas C, Pierides A, Voskarides K. The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol. 2012;27:1221-1231. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 30] [Cited by in RCA: 33] [Article Influence: 2.4] [Reference Citation Analysis (0)] |
| 33. | Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplant. 2006;10:651-657. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 82] [Cited by in RCA: 59] [Article Influence: 3.0] [Reference Citation Analysis (0)] |
| 34. | Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet. 2012;49:353-361. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 309] [Cited by in RCA: 327] [Article Influence: 23.4] [Reference Citation Analysis (0)] |
| 35. | Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018;20:630-638. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 69] [Cited by in RCA: 108] [Article Influence: 12.0] [Reference Citation Analysis (0)] |
| 36. | Kopp JB, Anders HJ, Susztak K, Podestà MA, Remuzzi G, Hildebrandt F, Romagnani P. Podocytopathies. Nat Rev Dis Primers. 2020;6:68. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 143] [Cited by in RCA: 456] [Article Influence: 76.0] [Reference Citation Analysis (1)] |
| 37. | Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Nephrol Dial Transplant. 2021;36:295-305. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 23] [Cited by in RCA: 44] [Article Influence: 8.8] [Reference Citation Analysis (0)] |
| 38. | Groopman E, Milo Rasouly H. Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies. Kidney Int Rep. 2025;10:673-695. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 1] [Cited by in RCA: 6] [Article Influence: 6.0] [Reference Citation Analysis (0)] |
| 39. | Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015;17:444-451. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 213] [Cited by in RCA: 255] [Article Influence: 21.3] [Reference Citation Analysis (0)] |
| 40. | Prakash S, Gharavi AG. Diagnosing kidney disease in the genetic era. Curr Opin Nephrol Hypertens. 2015;24:380-387. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 2] [Cited by in RCA: 9] [Article Influence: 0.9] [Reference Citation Analysis (0)] |
| 41. | Hays T, Groopman EE, Gharavi AG. Genetic testing for kidney disease of unknown etiology. Kidney Int. 2020;98:590-600. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 46] [Cited by in RCA: 53] [Article Influence: 8.8] [Reference Citation Analysis (0)] |
| 42. | Gaut JP, Jain S, Pfeifer JD, Vigh-Conrad KA, Corliss M, Sharma MK, Heusel JW, Cottrell CE. Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies. Mod Pathol. 2017;30:1739-1747. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 6] [Cited by in RCA: 8] [Article Influence: 0.9] [Reference Citation Analysis (0)] |
| 43. | Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Mol Genet Genomic Med. 2020;8:e1508. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 72] [Cited by in RCA: 70] [Article Influence: 11.7] [Reference Citation Analysis (0)] |
| 44. | Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. Management of Secondary Genomic Findings. Am J Hum Genet. 2020;107:3-14. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 9] [Cited by in RCA: 48] [Article Influence: 8.0] [Reference Citation Analysis (0)] |
| 45. | Ali H, Al-Mulla F, Hussain N, Naim M, Asbeutah AM, AlSahow A, Abu-Farha M, Abubaker J, Al Madhoun A, Ahmad S, Harris PC. PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. Sci Rep. 2019;9:4141. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 52] [Cited by in RCA: 58] [Article Influence: 8.3] [Reference Citation Analysis (4)] |
| 46. | Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015;47:717-726. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 267] [Cited by in RCA: 277] [Article Influence: 25.2] [Reference Citation Analysis (4)] |
| 47. | Wu J, Wu M, Chen T, Jiang R. Whole genome sequencing and its applications in medical genetics. Quant Biol. 2016;4:115-128. [RCA] [DOI] [Full Text] [Cited by in Crossref: 6] [Cited by in RCA: 6] [Article Influence: 0.6] [Reference Citation Analysis (0)] |
| 48. | Torra R, Lipska-Zietkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gear S, Gross O, Haeberle S, Heidet L, Lennon R, Massella L, Pfau K, Pizarro MDPV, Topaloglu R, Wlodkowski T, Zealey H; ERKNet, ERA Genes&Kidney and ESPN Inherited renal disorders working group. Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrol Dial Transplant. 2025;40:1091-1106. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 47] [Cited by in RCA: 32] [Article Influence: 32.0] [Reference Citation Analysis (0)] |
| 49. | Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023;25:100947. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 37] [Cited by in RCA: 102] [Article Influence: 34.0] [Reference Citation Analysis (0)] |
| 50. | Bogyo K, Vena N, Milo Rasouly H. The Art and Science of Genetic Counseling in Nephrology. Kidney360. 2025;6:1230-1244. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 2] [Cited by in RCA: 3] [Article Influence: 3.0] [Reference Citation Analysis (0)] |
| 51. | Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1391-1398. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 56] [Cited by in RCA: 190] [Article Influence: 38.0] [Reference Citation Analysis (0)] |
| 52. | Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Do research participants share genomic screening results with family members? J Genet Couns. 2022;31:447-458. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 20] [Cited by in RCA: 24] [Article Influence: 6.0] [Reference Citation Analysis (0)] |
| 53. | Boudreault P, Baldwin EE, Fox M, Dutton L, Tullis L, Linden J, Kobayashi Y, Zhou J, Sinsheimer JS, Sininger Y, Grody WW, Palmer CG. Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study. J Deaf Stud Deaf Educ. 2010;15:209-227. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 25] [Cited by in RCA: 28] [Article Influence: 1.8] [Reference Citation Analysis (0)] |
| 54. | Duenas DM, Shipman KJ, Porter KM, Shuster E, Guerra C, Reyes A, Kauffman TL, Hunter JE, Goddard KAB, Wilfond BS, Kraft SA. Motivations and concerns of patients considering participation in an implementation study of a hereditary cancer risk assessment program in diverse primary care settings. Genet Med. 2022;24:610-621. [RCA] [PubMed] [DOI] [Full Text] [Cited by in RCA: 6] [Reference Citation Analysis (0)] |
| 55. | Erskine KE, Hidayatallah NZ, Walsh CA, McDonald TV, Cohen L, Marion RW, Dolan SM. Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death. J Genet Couns. 2014;23:849-859. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 13] [Cited by in RCA: 18] [Article Influence: 1.5] [Reference Citation Analysis (0)] |
| 56. | Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424. [RCA] [PubMed] [DOI] [Full Text] [Full Text (PDF)] [Cited by in Crossref: 27361] [Cited by in RCA: 25758] [Article Influence: 2341.6] [Reference Citation Analysis (12)] |
| 57. | United States Congress. Genetic Information Nondiscrimination Act of 2008. 21 May 2008. Available from: https://www.congress.gov/110/plaws/publ233/PLAW-110publ233.pdf. |
| 58. | Huang JL, Zeng J, Wang F, Huang QT, Lu JB, Li XM, Chen WQ, Zhu CM, Jin JT, Lin SX. Responses to Crizotinib therapy in five patients with non-small-cell lung cancer who tested FISH negative and Ventana immunohistochemistry positive for ALK fusions. Per Med. 2017;14:99-107. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 1] [Cited by in RCA: 2] [Article Influence: 0.2] [Reference Citation Analysis (0)] |
| 59. | Varma A. Don’t Let the “Gene” Out of the Bottle. 5 Jan 2026. Available from: https://www.scconline.com/blog/post/2026/01/05/genetic-data-protection-dpdpa-india-compliance-analysis/. |
| 60. | Ministry of Electronics and Information Technology, Government of India. The Digital Personal Data Protection Act, 2023 (Act No 22 of 2023). 11 Aug 2023. Available from: https://www.meity.gov.in/writereaddata/files/Digital%20Personal%20Data%20Protection%20Act%202023.pdf. |
| 61. | Savige J, Liu J, DeBuc DC, Handa JT, Hageman GS, Wang YY, Parkin JD, Vote B, Fassett R, Sarks S, Colville D. Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci. 2010;51:1621-1627. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 63] [Cited by in RCA: 78] [Article Influence: 4.6] [Reference Citation Analysis (0)] |
| 62. | Gross O, Weber M, Fries JW, Müller GA. Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. Nephrol Dial Transplant. 2009;24:1626-1630. [RCA] [PubMed] [DOI] [Full Text] [Cited by in Crossref: 52] [Cited by in RCA: 48] [Article Influence: 2.7] [Reference Citation Analysis (0)] |