Arrayed Primer Extension Microarrays for Molecular Diagnostics

Molecular Diagnostics: Second Edition

Volumn , Issue , 2009, Pages 267-284

  Tonisson, Neeme ^a,c   Oitmaa, Eneli ^a,b   Krjutskov, Kaarel ^a,b   Pullat, Janne ^a   Lind, Ilona ^b,c   Leego, Merike ^a,b   Kurg, Ants ^a,b   Metspalu, Andres ^a,b,d  

^a UNIVERSITY OF TARTU   (Estonia)

^b Asper Biotech   (Estonia)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

^d UNIVERSITY OF TARTU   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79958269327     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374537-8.00017-1     Document Type: Chapter

References (164)

1. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent (2004). Obstet. Gynecol. 2004, 104:425-428. ACOG committee opinion, No. 298, Aug.
2. Aksentijevich I., Torosyan Y., Samuels J., Centola M., Pras E., Chae J.J., Oddoux C., Wood G., Azzaro M.P., Palumbo G., Giustolisi R., Pras M., Ostrer H., Kastner D.L. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 1999, 64:949-962.
3. Albert T.J., Norton J., Ott M., Richmond T., Nuwaysir K., Nuwaysir E.F., Stengele K.P., Green R.D. Light-directed 5'→3' synthesis of complex oligonucleotide microarrays. Nucleic Acids Res. 2003, 31:e35.
4. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 1997, 15:236-246.
5. Amor-Gueret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006, 236:1-12.
6. Anderson K.L., Baird L., Lewis R.A., Chinault A.C., Otterud B., Leppert M., Lupski J.R. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am. J. Hum. Genet. 1995, 57:1351-1363.
7. Anderson S.L., Ekstein J., Donnelly M.C., Keefe E.M., Toto N.R., LeVoci L.A., Rubin B.Y. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum. Genet. 2004, 115:185-190.
8. Andreson R., Reppo E., Kaplinski L., Remm M. GENOMEMASKER package for designing unique genomic PCR primers. BMC Bioinformatics 2006, 7:172.
9. Asakai R., Chung D.W., Davie E.W., Seligsohn U. Factor XI deficiency in Ashkenazi Jews in Israel. N. Engl. J. Med. 1991, 325:153-158.
10. Baldwin C.T., Weiss S., Farrer L.A., De Stefano A.L., Adair R., Franklyn B., Kidd K.K., Korostishevsky M., Bonne-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet. 1995, 4:1637-1642.
11. Bargal R., Avidan N., Ben-Asher E., Olender Z., Zeigler M., Frumkin A., Raas-Rothschild A., Glusman G., Lancet D., Bach G. Identification of the gene causing mucolipidosis type IV. Nat. Genet. 2000, 26:118-123.
12. Bargal R., Avidan N., Olender T., Ben Asher E., Zeigler M., Raas-Rothschild A., Frumkin A., Ben-Yoseph O., Friedlender Y., Lancet D., Bach G. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum. Mutat. 2001, 17:397-402.
13. Bauer A., Beckmann B., Busold C., Brandt O., Kusnezow W., Pullat J., Aign V., Fellenberg K., Fleischer R., Jacob A., Frohme M., Hoheisel J.D. Use of complex DNA and antibody microarrays as tools in functional analyses. Comp. Funct. Genomics 2003, 4:520-524.
14. Behar D.M., Hammer M.F., Garrigan D., Villems R., Bonne-Tamir B., Richards M., Gurwitz D., Rosengarten D., Kaplan M., Della Pergola S., Quintana-Murci L., Skorecki K. MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. Eur. J. Hum. Genet. 2004, 12:355-364.
15. Beier M., Hoheisel J.D. Production by quantitative photolithographic synthesis of individually quality checked DNA microarrays. Nucleic Acids Res. 2000, 28:E11.
16. Ben-Yosef T., Ness S.L., Madeo A.C., Bar-Lev A., Wolfman J.H., Ahmed Z.M., Desnick R.J., Willner J.P., Avraham K.B., Ostrer H., Oddoux C., Griffith AJ., Friedman T.B. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N. Engl. J. Med. 2003, 348:1664-1670.
17. Blanco I., de Serres F.J., Fernandez-Bustillo E., Lara B., Miravitlles M. Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur. Respir. J. 2006, 27:77-84.
18. Bobadilla J.L., Macek M., Fine J.P., Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum. Mutat. 2002, 19:575-606.
19. Bolton-Maggs P.H. Factor XI deficiency. Baillieres Clin. Haematol. 1996, 9:355-368.
20. Bonizzato A., Bisceglia L., Marigo C., Nicolis E., Bombieri C., Castellani C., Borgo G., Zelante L., Mastella G., Cabrini G., Bisceglia L., Zelante L., Gasparini P., Marigo C., Bombieri C., Pignatti P.F. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations. Hum. Genet. 1995, 95:397-402.
21. Boughman J.A., Vernon M., Shaver K.A. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J. Chronic. Dis. 1983, 36:595-603.
22. Breslauer K.J., Frank R., Blocker H., Marky L.A. Predicting DNA duplex stability from the base sequence. Proc. Natl. Acad. Sci. USA 1986, 83:3746-3750.
23. Casals T., Nunes V., Palacio A., Gimenez J., Gaona A., Ibanez N., Morral N., Estivill X. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum. Genet. 1993, 91:66-70.
24. Chapiro E., Feldmann D., Denoyelle F., Sternberg D., Jardel C., Eliot M.M., Bouccara D., Weil D., Garabedian E.N., Couderc R., Petit C., Marlin S. Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. Eur. J. Hum. Genet. 2002, 10:851-856.
25. Charrow J. Ashkenazi Jewish genetic disorders. Fam. Cancer 2004, 3:201-206.
26. Chen X., Levine L., Kwok P.Y. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999, 9:492-498.
27. Chillon M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., Romey M.C., Ruiz-Romero J., Verlingue C., Claustres M., Nunes V., Férec C., Estivill X. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 1995, 332:1475-1480.
28. Cochran G., Hardy J., Harpending H. Natural history of Ashkenazi intelligence. J. Biosoc. Sci. 2006, 38:659-693.
29. Collazo T., Magarino C., Chavez R., Suardiaz B., Gispert S., Gomez M., Rojo M., Heredero L. Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families. Hum. Hered. 1995, 45:55-57.
30. Cremers F.P., Kimberling W.J., Kulm M., de Brouwer A.P., van Wijk E., te Brinke H., Cremers C.W., Hoefsloot L.H., Banfi S., Simonelli F., Fleischhauer J.C., Berger W., Kelley P.M., Haralambous E., Bitner-Glindzicz M., Webster A.R., Saihan Z., De Baere E., Leroy B.P., Silvestri G., McKay G.J., Koenekoop R.K., Millan J.M., Rosenberg T., Joensuu T., Sankila E.M., Weil D., Weston M.D., Wissinger B., Kremer H. Development of a genotyping microarray for Usher syndrome. J. Med. Genet. 2007, 44:153-160.
31. Cryns K., Orzan E., Murgia A., Huygen P.L., Moreno F., del Castillo I., Chamberlin G.P., Azaiez H., Prasad S., Cucci R.A., Leonardi E., Snoeckx R.L., Govaerts P.J., Van de Heyning P.H., Van de Heyning C.M., Smith R.J., Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J. Med. Genet. 2004, 41:147-154.
32. Cuppens H., Lin W., Jaspers M., Costes B., Teng H., Vankeerberghen A., Jorissen M., Droogmans G., Reynaert I., Goossens M., Nilius B., Cassiman J.J. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Clin. Invest. 1998, 101:487-496.
33. Davis P.B., Drumm M., Konstan M.W. Cystic fibrosis. Am. J. Respir. Crit. Care. Med. 1996, 154:1229-1256.
34. De Braekeleer M., Mari C., Verlingue C., Allard C., Leblanc J.P., Simard F., Aubin G., Ferec C. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada). Clin. Genet. 1998, 53:44-46.
35. de Serres F.J. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002, 122:1818-1829.
36. del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., Azaiez H., Brownstein Z., Avenarius M.R., Marlin S., Pandya A., Shahin H., Siemering K.R., Weil D., Wuyts W., Aguirre L.A., Martin Y., Moreno-Pelayo M.A., Villamar M., Avraham K.B., Dahl H.H., Kanaan M., Nance W.E., Petit C., Smith R.J., Van Camp G., Sartorato E.L., Murgia A., Moreno F., del Castillo I. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 2005, 42:588-594.
37. del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J., Alvarez A., Telleria D., Menendez I., Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 2002, 346:243-249.
38. den Hollander A.I., Roepman R., Koenekoop R.K., Cremers F.P. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res. 2008, 27:391-419.
39. Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., Petit C. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999, 353:1298-1303.
40. Dequeker E., Accurso F., Cabeza S., Cassiman J.-J., Corey M., Davidson A., Döring G., Heidet L., Heijerman H., Kotsimbos T., Mastella G., Morrison C., Pignatti P.F., Strandvik B., Tsui L.-C., Dodge J. Classification of cystic fibrosis and related disorders. J. Cyst. Fibros. 2002, 1:5-8.
41. Diaz G.A., Gelb B.D., Risch N., Nygaard T.G., Frisch A., Cohen I.J., Miranda C.S., Amaral O., Maire I., Poenaru L., Caillaud C., Weizberg M., Mistry P., Desnick R.J. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am. J. Hum. Genet. 2000, 66:1821-1832.
42. Dodge J.A., Morison S., Lewis P.A., Coles E.C., Geddes D., Russell G., Littlewood J.M., Scott M.T. Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. UK Cystic Fibrosis Survey Management Committee. Arch. Dis. Child. 1997, 77:493-496.
43. Dong J., Edelmann L., Bajwa A.M., Kornreich R., Desnick R.J. Familial dysautonomia: detection of the IKBKAP IVS20(+6T>C) and R696P mutations and frequencies among Ashkenazi Jews. Am. J. Hum. Genet. 2002, 110:253-257.
44. Dork T., Macek M., Mekus F., Tummler B., Tzountzouris J., Casals T., Krebsova A., Koudova M., Sakmaryova I., Macek M., Vavrova V., Zemkova D., Ginter E., Petrova N.V., Ivaschenko T., Baranov V., Witt M., Pogorzelski A., Bal J., Zekanowsky C., Wagner K., Stuhrmann M., Bauer I., Seydewitz H.H., Neumann T., Jakubiczka S. Characterization of a novel 21-kb deletion, CFTRdele2,3(21kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum. Genet. 2000, 106:259-268.
45. Durst R., Colombo R., Shpitzen S., Avi L.B., Friedlander Y., Wexler R., Raal F.J., Marais D.A., Defesche J.C., Mandelshtam M.Y., Kotze M.J., Leitersdorf E., Meiner V. Recent origin and spread of a common Lithuanian mutation. G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 2001, 68:1172-1188.
46. Ebermann I., Scholl H.P., Charbel Issa P., Becirovic E., Lamprecht J., Jurklies B., Millan J.M., Aller E., Mitter D., Bolz H. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum. Genet. 2007, 121:203-211.
47. Edelmann L., Dong J., Desnick R.J., Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am. J. Hum. Genet. 2002, 70:1023-1027.
48. Edelmann L., Wasserstein M.P., Kornreich R., Sansaricq C., Snyderman S.E., Diaz G.A. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am. J. Hum. Genet. 2001, 69:863-868.
49. Ekstein J., Rubin B.Y., Anderson S.L., Weinstein D.A., Bach G., Abeliovich D., Webb M., Risch N. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am. J. Med Genet. A 2004, 129A:162-164.
50. Ellis N.A., German J. Molecular genetics of Bloom's syndrome. Hum. Mol. Genet. 1996, 5:1457-1463.
51. Estivill X., Bancells C., Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum. Mutat. 1997, 10:135-154.
52. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., Mansfield E., Rappaport E., Govea N., Mila M., Zelante L., Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998, 351:394-398.
53. Estivill X., Govea N., Barcelo E., Badenas C., Romero E., Moral L., Scozzri R., D'Urbano L., Zeviani M., Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am. J. Hum. Genet. 1998, 62:27-35.
54. Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., Adawi F., Hazani E., Nassir E., Baxevanis A.D., Sheffield V.C., Green E.D. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 1997, 17:411-422.
55. Fazzi E., Signorini S.G., Scelsa B., Bova S.M., Lanzi G. Leber's congenital amaurosis: an update. Eur. J. Paediatr. Neurol. 2003, 7:13-22.
56. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum. Mutat. 1999, 13:261-270.
57. Fischel-Ghodsian N. Mitochondrial deafness. Ear. Hear. 2003, 24:303-313.
58. Fodor S.P., Rava R.P., Huang X.C., Pease A.C., Holmes C.P., Adams C.L. Multiplexed biochemical assays with biological chips. Nature 1993, 364:555-556.
59. Gardner P., Oitmaa E., Messner A., Hoefsloot L., Metspalu A., Schrijver I. Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics 2006, 118:985-994.
60. Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen K., Metspalu A., Oitmaa E., Pisano M., Fortina P., Zelante L., Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur. J. Hum. Genet. 2000, 8:19-23.
61. Gemignani F., Perra C., Landi S., Canzian F., Kurg A., Tonisson N., Galanello R., Cao A., Metspalu A., Romeo G. Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin. Chem. 2002, 48:2051-2054.
62. Gojova L., Jansova E., Kulm M., Pouchla S., Kozak L. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. Clin. Genet. 2008, 73:441-452.
63. Goldstein D.B., Reich D.E., Bradman N., Usher S., Seligsohn U., Peretz H. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 1999, 64:1071-1075.
64. Gonzalez J.R., Wang W., Ballana E., Estivill X. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. Hum. Mutat. 2006, 27:1135-1142.
65. Grody W.W., Cutting G.R., Klinger K.W., Richards C.S., Watson M.S., Desnick R.J. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 2001, 3:149-154.
66. Guo Z., Guilfoyle R.A., Thiel A.J., Wang R., Smith L.M. Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports. Nucleic Acids Res. 1994, 22:5456-5465.
67. Hanein S., Perrault I., Gerber S., Tanguy G., Barbet F., Ducroq D., Calvas P., Dollfus H., Hamel C., Lopponen T., Munier F., Santos L., Shalev S., Zafeiriou D., Dufier J.L., Munnich A., Rozet J.M., Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 2004, 23:306-317.
68. Hamosh A., FitzSimmons S.C., Macek M., Knowles M.R., Rosenstein B.J., Cutting G.R. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J. Pediatr. 1998, 132:255-259.
69. Hardenbol P., Baner J., Jain M., Nilsson M., Namsaraev E.A., Karlin-Neumann G.A., Fakhrai-Rad H., Ronaghi M., Willis T.D., Landegren U., Davis R.W. Multiplexed genotyping with sequence-tagged molecular inversion probes. Nat. Biotechnol. 2003, 21:673-678.
70. Henneke M., Flaschker N., Helbling C., Muller M., Schadewaldt P., Gartner J., Wendel U. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum. Mutat. 2003, 22:417.
71. Hergersberg M., Balakrishnan J., Bettecken T., Chevalier-Porst F., Bragger C., Burger R., Einschenk I., Liechti-Gallati S., Morris M., Schorderet D., Thonney F., Moser H., Malik N. A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hum. Genet. 1997, 100:220-223.
72. Hope C.I., Bundey S., Proops D., Fielder A.R. Usher syndrome in the city of Birmingham - prevalence and clinical classification. Br. J. Ophthalmol. 1997, 81:46-53.
73. Hua J., Craig D.W., Brun M., Webster J., Zismann V., Tembe W., Joshipura K., Huentelman M.J., Dougherty E.R., Stephan D.A. SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays. Bioinformatics 2007, 23:57-63.
74. Ishikawa K., Tamagawa Y., Takahashi K., Kimura H., Kusakari J., Hara A., Ichimura K. Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation. Laryngoscope 2002, 112:1494-1499.
75. Jaakson K., Zernant J., Kulm M., Hutchinson A., Tonisson N., Glavac D., Ravnik-Glavac M., Hawlina M., Meltzer M.R., Caruso R.C., Testa F., Maugeri A., Hoyng C.B., Gouras P., Simonelli F., Lewis R.A., Lupski J.R., Cremers F.P., Allikmets R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum. Mutat. 2003, 22:395-403.
76. Kaneko H., Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev. Mol. Diagn. 2004, 4:393-401.
77. Kaul R., Gao G.P., Aloya M., Balamurugan K., Petrosky A., Michals K., Matalon R. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 1994, 55:34-41.
78. Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet. Med. 2002, 4:258-274.
79. Kere J., Estivill X., Chillon M., Morral N., Nunes V., Norio R., Savilahti E., de la Chapelle A. Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum. Genet. 1994, 93:162-166.
80. Kerem E., Kalman Y.M., Yahav Y., Shoshani T., Abeliovich D., Szeinberg A., Rivlin J., Blau H., Tal A., Ben-Tur L., Springer C., Augarten A., Godfrey S., Lerer I., Branski D., Friedman M., Kerem B. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum. Genet. 1995, 96:193-197.
81. Klevering B.J., Yzer S., Rohrschneider K., Zonneveld M., Allikmets R., van den Born L.I., Maugeri A., Hoyng C.B., Cremers F.P. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur. J. Hum. Genet. 2004, 12:1024-1032.
82. Klito N.G., Tan Q., Nyegaard M., Brusgaard K., Thomassen M., Skouboe C., Dahlgaard J., Kruse T.A. Arrayed primer extension in the "array of arrays" format: a rational approach for microarray-based SNP genotyping. Genet. Test. 2007, 11:160-166.
83. Koenekoop R.K., Lopez I., den Hollander A.I., Allikmets R., Cremers F.P. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clin. Experiment. Ophthalmol. 2007, 35:473-485.
84. Kosorok M.R., Wei W.H., Farrell P.M. The incidence of cystic fibrosis. Stat. Med. 1996, 15:449-462.
85. Kringen P., Bergamaschi A., Due E.U., Wang Y., Tagliabue E., Nesland J.M., Ahman A., Tõnisson N., Borresen-Dale A.L. Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas. Biotechniques 2005, 39:755-761.
86. Kristidis P., Bozon D., Corey M., Markiewicz D., Rommens J., Tsui L.C., Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am. J. Hum. Genet. 1992, 50:1178-1184.
87. Krjutskov K., Andreson R., Magi R., Nikopensius T., Khrunin A., Mihailov E., Tammekivi V., Sork H., Remm M., Metspalu A. Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays. Nucleic Acids Res. 2008, 36:e75.
88. Kurg A., Tonisson N., Georgiou I., Shumaker J., Tollett J., Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet. Test. 2000, 4:1-7.
89. Lahermo P., Liljedahl U., Alnaes G., Axelsson T., Brookes A.J., Ellonen P., Groop P.H., Hallden C., Holmberg D., Holmberg K., Keinanen M., Kepp K., Kere J., Kiviluoma P., Kristensen V., Lindgren C., Odeberg J., Osterman P., Parkkonen M., Saarela J., Sterner M., Stromqvist L., Talas U., Wessman M., Palotie A., Syvanen A.C. A quality assessment survey of SNP genotyping laboratories. Hum. Mutat. 2006, 27:711-714.
90. Le Calvez F., Ahman A., Tonisson N., Lambert J., Temam S., Brennan P., Zaridze D.G., Metspalu A., Hainaut P. Arrayed primer extension resequencing of mutations in the TP53 tumor suppressor gene: comparison with denaturing HPLC and direct sequencing. Clin. Chem. 2005, 51:1284-1287.
91. Leib J.R., Gollust S.E., Hull S.C., Wilfond B.S. Carrier screening panels for Ashkenazi Jews: is more better?. Genet. Med. 2005, 7:185-190.
92. Lerer I., Sagi M., Malamud E., Levi H., Raas-Rothschild A., Abeliovich D. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 2000, 95:53-56.
93. Levran O., Desnick R.J., Schuchman E.H. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood 1992, 80:2081-2087.
94. Levran O., Desnick R.J., Schuchman E.H. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum. Mutat. 1993, 2:317-319.
95. Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., Wilcox E.R. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 1998, 18:215-217.
96. Lindroos K., Liljedahl U., Raitio M., Syvanen A.C. Minisequencing on oligonucleotide microarrays: comparison of immobilisation chemistries. Nucleic Acids Res. 2001, 29:E69.
97. Lindroos K., Sigurdsson S., Johansson K., Ronnblom L., Syvanen A.C. Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system. Nucleic Acids Res. 2002, 30:e70.
98. Liu X.Z., Ouyang X.M., Xia X.J., Zheng J., Pandya A., Li F., Du L.L., Welch K.O., Petit C., Smith R.J., Webb B.T., Yan D., Arnos K.S., Corey D., Dallos P., Nance W.E., Chen Z.Y. Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum. Mol. Genet. 2003, 12:1155-1162.
99. Liu X.Z., Xia X.J., Adams J., Chen Z.Y., Welch K.O., Tekin M., Ouyang X.M., Kristiansen A., Pandya A., Balkany T., Arnos K.S., Nance W.E. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum. Mol. Genet. 2001, 10:2945-2951.
100. Liu X.Z., Xia X.J., Xu L.R., Pandya A., Liang C.Y., Blanton S.H., Brown S.D., Steel K.P., Nance W.E. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum. Mol. Genet. 2000, 9:63-67.
101. Macek M., Mackova A., Hamosh A., Hilman B.C., Selden R.F., Lucotte G., Friedman K.J., Knowles M.R., Rosenstein B.J., Cutting G.R. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am. J. Hum. Genet. 1997, 60:1122-1127.
102. Mahuran D.J., Triggs-Raine B.L., Feigenbaum A.J., Gravel R.A. The molecular basis of Tay-Sachs disease: mutation identification and diagnosis. Clin Biochem. 1990, 23:409-415.
103. Meiner V., Landsberger D., Berkman N., Reshef A., Segal P., Seftel H.C., van der Westhuyzen D.R., Jeenah M.S., Coetzee G.A., Leitersdorf E. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am. J. Hum. Genet. 1991, 49:443-449.
104. Mercier B., Raguenes O., Estivill X., Morral N., Kaplan G.C., McClure M., Grebe T.A., Kessler D., Pignatti P.F., Marigo C., Bombieri C., Audrézet M.P., Verlingue C., Férec C. Complete detection of mutations in cystic fibrosis patients of Native American origin. Hum. Genet. 1994, 94:629-632.
105. Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K., Fisher R., Van Camp G., Berlin C.I., Oddoux C., Ostrer H., Keats B., Friedman T.B. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 1998, 339:1500-1505.
106. Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., Leonardi E., Arslan E., Zacchello F. Cx26 deafness: mutation analysis and clinical variability. J. Med. Genet. 1999, 36:829-832.
107. Nestorowicz A., Wilson B.A., Schoor K.P., Inoue H., Glaser B., Landau H., Stanley C.A., Thornton P.S., Clement J.P., Bryan J., Aguilar-Bryan L., Permutt M.A. Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 1996, 5:1813-1822.
108. Orozco L., Velazquez R., Zielenski J., Tsui L.C., Chavez M., Lezana J.L., Saldana Y., Hernandez E., Carnevale A. Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A). Hum. Genet. 2000, 106:360-365.
109. Ostrer H. A genetic profile of contemporary Jewish populations. Nat. Rev. Genet. 2001, 2:891-898.
110. Otterstedde C.R., Spandau U., Blankenagel A., Kimberling W.J., Reisser C. A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I. Laryngoscope 2001, 111:84-86.
111. Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de Leon D., Brin M.F., Raymond D., Corey D.P., Fahn S., Risch N.J., Buckler A.J., Gusella J.F., Breakefield X.O. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1997, 17:40-48.
112. Ouyang X.M., Hejtmancik J.F., Jacobson S.G., Li A.R., Du L.L., Angeli S., Kaiser M., Balkany T., Liu X.Z. Mutational spectrum in Usher syndrome type II. Clin. Genet. 2004, 65:288-293.
113. Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D., Balkany T., Liu X.Z. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum. Genet. 2005, 116:292-299.
114. Pakarinen L., Tuppurainen K., Laippala P., Mantyjarvi M., Puhakka H. The ophthalmological course of Usher syndrome type III. Int. Ophthalmol. 1995, 19:307-311.
115. Parvari R., Lei K.J., Bashan N., Hershkovitz E., Korman S.H., Barash V., Lerman-Sagie T., Mandel H., Chou J.Y., Moses S.W. Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. Am. J. Med. Genet. 1997, 72:286-290.
116. Parvari R., Moses S., Shen J., Hershkovitz E., Lerner A., Chen Y.T. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur. J. Hum. Genet. 1997, 5:266-270.
117. Pastinen T., Kurg A., Metspalu A., Peltonen L., Syvanen A.C. Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 1997, 7:606-614.
118. Perrault I., Rozet J.M., Gerber S., Ghazi I., Leowski C., Ducroq D., Souied E., Dufier J.L., Munnich A., Kaplan J. Leber congenital amaurosis. Mol. Genet. Metab. 1999, 68:200-208.
119. Petitjean A., Achatz M.I., Borresen-Dale A.L., Hainaut P., Olivier M. TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene 2007, 26:2157-2165.
120. Pezzilli R., Morselli-Labate A.M., Mantovani V., Romboli E., Selva P., Migliori M., Corinaldesi R., Gullo L. Mutations of the CFTR gene in pancreatic disease. Pancreas 2003, 27:332-336.
121. Pignatti P.F., Bombieri C., Marigo C., Benetazzo M., Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum. Mol. Genet. 1995, 4:635-639.
122. Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993, 4:289-294.
123. Pullat J., Fleischer R., Becker N., Beier M., Metspalu A., Hoheisel J.D. Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples. BMC Genomics 2007, 8:282.
124. Pullat J., Kusnezow W., Jaakson K., Beier M., Hoheisel J.D., Metspalu A. Arrayed primer extension on in situ synthesized 5'>3' oligonucleotides in microchannels. New Biotechnol. 2008, 25:133-141.
125. Quint A., Lerer I., Sagi M., Abeliovich D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am. J. Med. Genet. A 2005, 136:246-248.
126. Radpour R., Gourabi H., Gilani M.A., Dizaj A.V. Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. J. Androl. 2007, 28:541-547.
127. Reardon W., Coffey R., Chowdhury T., Grossman A., Jan H., Britton K., Kendall-Taylor P., Trembath R. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J. Med. Genet. 1999, 36:595-598.
128. Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J.L., Drumm M.L., Iannuzzi M.C., Collins F.C., Tsui L.C. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
129. Risch N., de Leon D., Ozelius L., Kramer P., Almasy L., Singer B., Fahn S., Breakefield X., Bressman S. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat. Genet. 1995, 9:152-159.
130. Risch N., Tang H., Katzenstein H., Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am. J. Hum. Genet. 2003, 72:812-822.
131. Rommens J.M., Iannuzzi M.C., Kerem B., Drumm M.L., Melmer G., Dean M., Rozmahel R., Cole J.L., Kennedy D., Hidaka N., Zsiga M., Buchwald M., Riordam J.R., Tsui L.C., Collins F.C. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
132. Rozen R., De Braekeleer M., Daigneault J., Ferreira-Rajabi L., Gerdes M., Lamoureux L., Aubin G., Simard F., Fujiwara T.M., Morgan K. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am. J. Med. Genet. 1992, 42:360-364.
133. Roux A.F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J. Med. Genet. 2006, 43:763-768.
134. Rychlik W., Rhoads R.E. A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA. Nucleic Acids Res. 1989, 17:8543-8551.
135. Schrijver I., Kulm M., Gardner P.I., Pergament E.P., Fiddler M.B. Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. J. Mol. Diagn. 2007, 9:228-236.
136. Schrijver I., Oitmaa E., Metspalu A., Gardner P. Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J. Mol. Diagn. 2005, 7:375-387.
137. Schwarz M.J., Malone G.M., Haworth A., Cheadle J.P., Meredith A.L., Gardner A., Sawyer I.H., Connarty M., Dennis N., Seller A., Harris A., Taylor R., Dear S., Middleton-Price H., McMahon C., Mayall E., McMahon R., Barton D.E., Giles M., Lindley V., Plaha D.S., Price S., Sharif A., Cross G.S., Dalton A., Taylor G., Wallace A., Tassabehji M., Whittaker J.L., Butler R., Curtis A., Pinkett R., Gilfillan A.J., Brock D.J., Higgins G.S., Lanyon G., Miedzybrodzka Z., Davidson M., Graham C.A., Hill A.J. Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. Hum. Mutat. 1995, 6:326-333.
138. Schwartz M., Anvret M., Claustres M., Eiken H.G., Eiklid K., Schaedel C., Stolpe L., Tranebjaerg L. 394delTT: a Nordic cystic fibrosis mutation. Hum. Genet. 1994, 93:157-161.
139. Schwartz M., Sorensen N., Brandt N.J., Hogdall E., Holm T. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. Hum. Genet. 1995, 95:703-706.
140. Shaag A., Saada A., Berger I., Mandel H., Joseph A., Feigenbaum A., Elpeleg O.N. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am. J. Med. Genet. 1999, 82:177-182.
141. Singh-Gasson S., Green R.D., Yue Y., Nelson C., Blattner F., Sussman M.R., Cerrina F. Maskless fabrication of light-directed oligonucleotide microarrays using a digital micromirror array. Nat. Biotechnol. 1999, 17:974-978.
142. Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am. J. Hum. Genet. 2004, 75:282-293.
143. Smith R.J., Berlin C.I., Hejtmancik J.F., Keats B.J., Kimberling W.J., Lewis R.A., Moller C.G., Pelias M.Z., Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. J. Med. Genet. 1994, 50:32-38.
144. Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F., Waligora J., Mueller-Malesinska M., Pollak A., Ploski R., Murgia A., Orzan E., Castorina P., Ambrosetti U., Nowakowska-Szyrwinska E., Bal J., Wiszniewski W., Janecke A.R., Nekahm-Heis D., Seeman P., Bendova O., Kenna M.A., Frangulov A., Rehm H.L., Tekin M., Incesulu A., Dahl H.H., du Sart D., Jenkins L., Lucas D., Bitner-Glindzicz M., Avraham K.B., Brownstein Z., del Castillo I., Moreno F., Blin N., Pfister M., Sziklai I., Toth T., Kelley P.M., Cohn E.S., Van Maldergem L., Hilbert P., Roux A.F., Mondain M., Hoefsloot L.H., Cremers C.W., Lopponen T., Lopponen H., Parving A., Gronskov K., Schrijver I., Roberson J., Gualandi F., Martini A., Lina-Granade G., Pallares-Ruiz N., Correia C., Fialho G., Cryns K., Hilgert N., Van de Heyning P., Nishimura C.J., Smith R.J., Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 2005, 77:945-957.
145. Southern E., Mir K., Shchepinov M. Molecular interactions on microarrays. Nat. Genet. 1999, 21:5-9.
146. Strom C.M., Crossley B., Redman J.B., Quan F., Buller A., McGinniss M.J., Sun W. Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet. Med. 2004, 6:145-152.
147. Sue C.M., Tanji K., Hadjigeorgiou G., Andreu A.L., Nishino I., Krishna S., Bruno C., Hirano M., Shanske S., Bonilla E., Fischel-Ghodsian N., DiMauro S., Friedman R. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999, 52:1905-1908.
148. Teder M., Klaassen T., Oitmaa E., Kaasik K., Metspalu A. Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia. J. Med. Genet. 2000, 37:E16.
149. Tonisson N., Zernant J., Kurg A., Pavel H., Slavin G., Roomere H., Meiel A., Hainaut P., Metspalu A. Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene. Proc. Natl. Acad. Sci. USA 2002, 99:5503-5508.
150. Triggs-Raine B.L., Mules E.H., Kaback M.M., Lim-Steele J.S., Dowling C.E., Akerman B.R., Natowicz M.R., Grebner E.E., Navon R., Welch J.P., Greenberg C.R., Thomas G.H., Gravel R.A. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am. J. Hum. Genet. 1992, 51:793-801.
151. van Baal S., Kaimakis P., Phommarinh M., Koumbi D., Cuppens H., Riccardino F., Macek M., Scriver C.R., Patrinos G.P. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res. 2007, 35:D690-D695.
152. Van Camp G., Willems P.J., Smith R.J. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 1997, 60:758-764.
153. Verlander P.C., Lin J.D., Udono M.U., Zhang Q., Gibson R.A., Mathew C.G., Auerbach A.D. Mutation analysis of the Fanconi anemia gene FACC. Am. J. Hum. Genet. 1994, 54:595-601.
154. Watson M.S., Cutting G.R., Desnick R.J., Driscoll D.A., Klinger K., Mennuti M., Palomaki G.E., Popovich B.W., Pratt V.M., Rohlfs E.M., Strom C.M., Richards C.S., Witt D.R., Grody W.W. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 2004, 6:387-391.
155. Wetmur J.G., Davidson N. Kinetics of renaturation of DNA. J. Mol. Biol. 1968, 31:349-370.
156. Whitney M.A., Jakobs P., Kaback M., Moses R.E., Grompe M. The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. Hum. Mutat. 1994, 3:339-341.
157. Williams D.S. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008, 48:433-441.
158. Xia J.H., Liu C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D., Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet. 1998, 20:370-373.
159. Yee K., Robinson C., Hurlock G., Moss R.B., Wine J.J. Novel cystic fibrosis mutation L1093P: functional analysis and possible Native American origin. Hum. Mutat. 2000, 15:208.
160. Yilmaz E., Erdem H., Ozguc M., Coskun T., Ozcelik U., Gocmen A., Ozalp I. Study of 12 mutations in Turkish cystic fibrosis patients. Hum. Hered. 1995, 45:175-177.
161. Yzer S., Leroy B.P., De Baere E., de Ravel T.J., Zonneveld M.N., Voesenek K., Kellner U., Ciriano J.P., de Faber J.T., Rohrschneider K., Roepman R., den Hollander A.I., Cruysberg J.R., Meire F., Casteels I., van Moll-Ramirez N.G., Allikmets R., van den Born L.I., Cremers F.P. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 2006, 47:1167-1176.
162. Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L., Govea N., Mila M., Monica M.D., Lutfi J., Shohat M., Mansfield E., Delgrosso K., Rappaport E., Surrey S., Fortina P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 1997, 6:1605-1609.
163. Zernant J., Kulm M., Dharmaraj S., den Hollander A.I., Perrault I., Preising M.N., Lorenz B., Kaplan J., Cremers F.P., Maumenee I., Koenekoop R.K., Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest. Ophthalmol. Vis. Sci. 2005, 46:3052-3059.
164. Zielenski J., Fujiwara T.M., Markiewicz D., Paradis A.J., Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.C., Morgan K. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am. J. Hum. Genet. 1993, 52:609-615.