1. Baird PA., Anderson TW, Newcombe HB et al. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42: 677–693.
2. Blair DR, Lyttle CS, Mortensen JM et al. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell 2013; 155: 70–80.
3. Pauling L, Itano, HA et al. Sickle cell anemia a molecular disease. Science 1949; 110: 543–548.
4. Ingram VM. A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 1956; 178: 792–794.
5. Gitschier J, Wood WI, Goralka TM et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326–330.
6. Botstein D, White RL, Skolnick M et al. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980; 32: 314–331.
7. Collins FS. Positional cloning moves from perditional to traditional. Nat Genet 1995; 9: 347–350.
8. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003; 33 Suppl: 228–237.
9. Altshuler D. A haplotype map of the human genome. Nature 2005; 437: 1299–1320.
10. Auton A, Brooks LD, Durbin RM et al. A global reference for human genetic variation. Nature 2015; 526: 68–74.
11. Lek M, Karczewski KJ, Minikel EV et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016; 536: 285–291.
12. Sobreira N, Schiettecatte F, Boehm C et al. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 2015; 36: 425–431.
13. Kirby A, Gnirke A, Jaffe DB et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013; 45: 299–303.
14. Kmoch S, Hartmannová H, Stiburková B et al. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Hum Mol Genet 2000; 9: 1501–1513.
15. Kmoch S, Brynda J, Asfaw B et al. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet 2000; 9: 1779–1786.
16. Hřebíček M, Mrázová L, Seyrantepe V et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 2006; 79: 807–819.
17. Čížková A, Stránecký V, Mayr JA et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 2008; 40: 1288–1290.
18. Stiburková B, Majewski J, Šebesta I et al. Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity. Am J Hum Genet 2000; 66: 1989–1994.
19. Živná M, Hulková H, Matignon M et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009; 85: 204–213.
20. Bolar NA, Golzio C, Živná M et al. Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia. Am J Hum Genet 2016; 99:174–187.
21. Nosková L, Stránecký V, Hartmannová H et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011; 89: 241–252.
22. Van de Steeg E, Stránecký V, Hartmannová H et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest 2012; 122: 519–528.
23. Stránecký V, Hoischen A, Hartmannová H et al. Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet 2013; 92: 792–799.
24. Hartmannová H, Kubánek M, Šrámko M et al. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet 2013; 6: 543–551.
25. Park EJ, Grabinska KA, Guan Z et al. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. Cell Metab 2014; 20: 448–457.
26. Kmoch S, Majewski J, Ramamurthy V et al. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun 2015; 6: 5614.
27. Davidson AE, Lišková P, Evans CJ et al. Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2. Am J Hum Genet 2016; 98: 75–89.
28. Lišková P, Dudáková L, Evans CJ et al. Ectopic GRHL2 expression due to non-coding mutations promotes cell state transition and causes posterior polymorphous corneal dystrophy 4. Am J Hum Genet 2018; 102: 447–459.
29. Hartmannová H, Piherová L, Tauchmannová K et al. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet 2016; 25: 4062–4079.
30. Gstrein T, Edwards A, Přistoupilová A et al. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci 2018; 21: 207–217.
31. Lupski JR, Belmont JW, Boerwinkle E et al. Clan genomics and the complex architecture of human disease. Cell 2011; 147: 32–43.