Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017;136:665–77.
Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17:424–33.
Chong JX, Buckingham KJ, Jhangiani SN, et al. The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. 2015;97:199–215.
Saxena N, Taneja N, Shome P, Mani S. Mitochondrial donation: a boon or curse for the treatment of incurable mitochondrial diseases. J Hum Reprod Sci. 2018;11:3–9.
Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays. 2000;22:452–9.
Butler MG. Genomic imprinting disorders in humans: a mini-review. J Assist Reprod Genet. 2009;26:477–86.
Ahn JW, Mann K, Walsh S, et al. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol Cytogenet. 2010;3:9.
Bejjani BA, Shaffer LG. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn. 2006;8:528–33.
Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12:742–5.
Bartnik M, Nowakowska B, Derwinska K, et al. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014;55:125–44.
Hay SB, Sahoo T, Travis MK, et al. ACOG and SMFM guidelines for prenatal diagnosis: is karyotyping really sufficient? Prenat Diagn. 2018;38:184–9.
Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nat Rev Genet. 2015;16:172–83.
Wang J, Zhan H, Li FY, et al. Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders. Mol Genet Metab. 2012;106:221–30.
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, et al. Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet. 2012;20:161–5.
Richards S, Aziz N, Bale S, 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. Genet Med. 2015;17:405–24.
Nowakowska B. Clinical interpretation of copy number variants in the human genome. J Appl Genet. 2017;58:449–57.
Manolakos E, Vetro A, Kefalas K, et al. The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet. 2010;3:22.
Siggberg L, Ala-Mello S, Jaakkola E, et al. Array CGH in molecular diagnosis of mental retardation—a study of 150 Finnish patients. Am J Med Genet A. 2010;152a:1398–410.
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74:5463–7.
Sun Y, Ruivenkamp CA, Hoffer MJ, et al. Next-generation diagnostics: gene panel, exome, or whole genome? Hum Mutat. 2015;36:648–55.
Sboner A, Mu XJ, Greenbaum D, Auerbach RK, Gerstein MB. The real cost of sequencing: higher than you think! Genome Biol. 2011;12:125.
Soliman NA. Orphan kidney diseases. Nephron Clin Pract. 2012;120:c194–9.
Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 295% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279–89.
Ashton EJ, Legrand A, Benoit V, et al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney Int. 2018;93:961–7.
Bullich G, Domingo-Gallego A, Vargas I, et al. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int. 2018;94:363–71.
Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380:142–51.
Mann N, Braun DA, Amann K, et al. Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients. J Am Soc Nephrol. 2019;30:201–15.
Matthijs G, Souche E, Alders M, et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016;24:2–5.
Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018;3:16.
Liu P, Meng L, Normand EA, et al. Reanalysis of clinical exome sequencing data. N Engl J Med. 2019;380:2478–80.
Lambert AS, Linglart A. Hypocalcaemic and hypophosphatemic rickets. Best Pract Res Clin Endocrinol Metab. 2018;32:455–76.
Razali NN, Hwu TT, Thilakavathy K. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2015;28:1009–17.
Alizadeh Naderi AS, Reilly RF. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010;6:657–65.
Fuente R, Gil-Pena H, Claramunt-Taberner D, et al. X-linked hypophosphatemia and growth. Rev Endocr Metab Disord. 2017;18:107–15.
Sabbagh Y, Jones AO, Tenenhouse HS. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. Hum Mutat. 2000;16:1–6.
Morey M, Castro-Feijoo L, Barreiro J, et al. Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet. 2011;12:116.
Capelli S, Donghi V, Maruca K, et al. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone. 2015;79:143–9.
Ruppe M. X-Linked Hypophosphatemia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2019. 2012. https://www.ncbi.nlm.nih.gov/books/NBK83985/. Accessed 19 Feb 2019.