An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease

[1]  D. Goldstein,et al.  Rare genetic causes of complex kidney and urological diseases , 2020, Nature Reviews Nephrology.

[2]  A. Gharavi,et al.  Genetic testing for kidney disease of unknown etiology. , 2020, Kidney international.

[3]  Richard J. H. Smith,et al.  Initial experience from a renal genetics clinic demonstrates a distinct role in patient management , 2020, Genetics in Medicine.

[4]  A. Chiriță-Emandi,et al.  Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels , 2020, Scientific Reports.

[5]  L. Bu,et al.  Autosomal Dominant Tubulointerstitial Kidney Disease—Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease , 2020, Kidney international reports.

[6]  S. Ellard,et al.  ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020 , 2020 .

[7]  V. Jha,et al.  A single number for advocacy and communication-worldwide more than 850 million individuals have kidney diseases. , 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[8]  H. Morgenstern,et al.  US Renal Data System 2019 Annual Data Report: Epidemiology of Kidney Disease in the United States. , 2019, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[9]  J. Rosenfeld,et al.  Characterization of the renal phenotype in RMND1‐related mitochondrial disease , 2019, Molecular genetics & genomic medicine.

[10]  J. Hentschel,et al.  Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. , 2019, Kidney international.

[11]  J. Deleuze,et al.  Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests , 2019, European Journal of Human Genetics.

[12]  Thomas M. Kitzler,et al.  Monogenic causes of chronic kidney disease in adults. , 2019, Kidney international.

[13]  A. Teixeira-Pinto,et al.  Overall and Site-Specific Cancer Mortality in Patients on Dialysis and after Kidney Transplant. , 2019, Journal of the American Society of Nephrology : JASN.

[14]  Thomas M. Kitzler,et al.  Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. , 2019, Journal of the American Society of Nephrology : JASN.

[15]  Chunhua Weng,et al.  Diagnostic Utility of Exome Sequencing for Kidney Disease , 2019, The New England journal of medicine.

[16]  W. Chung,et al.  The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing , 2018, Annals of Internal Medicine.

[17]  Austin Carter,et al.  Forecasting life expectancy, years of life lost, and all-cause and cause-specific mortality for 250 causes of death: reference and alternative scenarios for 2016–40 for 195 countries and territories , 2018, The Lancet.

[18]  J. Wong,et al.  SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts. , 2018, Journal of the American Society of Nephrology : JASN.

[19]  C. Kashtan.  Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation , 2018, International journal of nephrology and renovascular disease.

[20]  Cristina Has,et al.  Faculty of 1000 evaluation for 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. , 2018 .

[21]  Julia M. Barbarino,et al.  PharmGKB: A worldwide resource for pharmacogenomic information , 2018, Wiley interdisciplinary reviews. Systems biology and medicine.

[22]  S. Mane,et al.  Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. , 2018, Clinical journal of the American Society of Nephrology : CJASN.

[23]  K. Williams,et al.  Genetic vulnerabilities to prenatal alcohol exposure: Limb defects in sonic hedgehog and GLI2 heterozygous mice. , 2017, Birth defects research.

[24]  M. Sarwal,et al.  Transplant genetics and genomics , 2017, Nature Reviews Genetics.

[25]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[26]  F. Hildebrandt.  Genetics of Kidney Diseases. , 2016, Seminars in nephrology.

[27]  L. Mestroni,et al.  Danon disease – dysregulation of autophagy in a multisystem disorder with cardiomyopathy , 2016, Journal of Cell Science.

[28]  Friedhelm Hildebrandt,et al.  Exploring the genetic basis of early-onset chronic kidney disease , 2016, Nature Reviews Nephrology.

[29]  Bale,et al.  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 , 2015, Genetics in Medicine.

[30]  J. Sundquist,et al.  Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study , 2014, PloS one.

[31]  G. Mollet,et al.  A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. , 2014, Journal of the American Society of Nephrology : JASN.

[32]  G. Genovese,et al.  Mutations in PAX2 associate with adult-onset FSGS. , 2014, Journal of the American Society of Nephrology : JASN.

[33]  K. Tory,et al.  Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome , 2014, Nature Genetics.

[34]  Ronald Cornet,et al.  New primary renal diagnosis codes for the ERA-EDTA , 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[35]  H. Sariola,et al.  Sema4C-Plexin B2 signalling modulates ureteric branching in developing kidney. , 2010, Differentiation; research in biological diversity.

[36]  Pao-Tien Chuang,et al.  GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis , 2006, Development.