Genetic Disorders and the Fetus. Группа авторов

Singer A, Sagi‐Dain L. Impact of a national genetic carrier‐screening program for reproductive purposes. Acta Obstet Gynecol Scand 2020; 99:802.

      567 567. Shi L, Webb BD, Birch AH, et al. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants. Clin Genet 2017; 91:599.

      568 568. Baskovich B, Hiraki S, Upadhyay K, et al. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med 2016; 18:522.

      569 569. Bristow SL, Morris JM, Peyser A, et al. Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre. Reprod Biomed Online 2019; 38:225.

      570 570. Rosenblum LS, Zhu H, Zhou Z, et al. Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent. J Genet Couns 2020; 29:56.

      571 571. Arjunan A, Litwack K, Collins N, et al. Carrier screening in the era of expanding genetic technology. Genet Med 2016; 18:1214.

      572 572. Gregg AR, Edwards JG. Prenatal genetic carrier screening in the genomic age. Semin Perinatol 2018; 42:303.

      573 573. Grzymski JJ, Elhanan G, Morales Rosado JA, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med 2020; 26(8):1235.

      574 574. Neben CL, Zimmer AD, Stedden W, et al. Multi‐gene panel testing of 23,179 individuals for hereditary cancer risk identifies pathogenic variant carriers missed by current genetic testing guidelines. J Mol Diagn 2019; 21:646.

      575 575. Tandy‐Connor S, Guiltinan J, Krempely K, et al. False‐positive results released by direct‐to‐consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018; 20:1515.

      576 576. Petersen LM, Lefferts JA. Lessons learned from direct‐to‐consumer genetic testing. Clin Lab Med 2020; 40:83.

      577 577. Laestadius LI, Rich JR, Auer PL. All of your data (effectively) belongs to us: data practices among direct‐to‐consumer genetic testing firms. Genet Med 2017; 19:513.

      578 578. de Pauw A, Schwartz M, Colas C, et al. Direct‐to‐consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies. Eur J Cancer 2020; 132:100.

      579 579. Horton R, Crawford G, Freeman L, et al. Direct‐to‐consumer genetic testing. BMJ 2019; 367:I5688.

      580 580. Millward M, Tiller J, Bogwitz M, et al. Impact of direct‐to‐consumer genetic testing on Australian clinical genetic services. Eur J Med Genet 2020; 63:103968.

      581 581. Huml AM, Sullivan C, Figueroa M, et al. Consistency of direct‐to‐consumer genetic testing results among identical twins. Am J Med 2020; 133:143.e2.

      582 582. Garmany R, Lee CJ, Sharp RR, et al. Failure to follow up on a medically actionable finding from direct to consumer genetic testing: a case report. Mol Genet Genomic Med 2020; 8:e.1252.

      583 583. Niemiec E, Kalokairinou L, Howard HC. Current ethical and legal issues in health‐related direct‐to‐consumer genetic testing. Per Med 2017; 14:433.

      584 584. Committee on Genetics. Committee opinion no. 724: consumer testing for disease risk. Obstet Gynecol 2017; 130:e270.

      585 585. ACMG Board of Directors. Direct‐to‐consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med 2016; 18:207.

      586 586. Wilson RD, De Bie I, Armour CM, et al. Joint SOGC‐CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct‐to‐consumer testing. J Obstet Gynaecol Can 2016; 38:742.e3.

      587 587. Kalokairinou L, Howard HC, Slokenberga S, et al. Legislation of direct‐to‐consumer genetic testing in Europe: a fragmented regulatory landscape. J Community Genet 2018; 9:117.

      588 588. de Paor A. Direct to consumer genetic testing‐law and policy concerns in Ireland. Ir J Med Sci 2018; 187:575.

      589 589. Rafiq M, Ianuale C, Ricciardi W, et al. Direct‐to‐consumer genetic testing: a systematic review of European guidelines, recommendations, and position statements. Genet Test Mol Biomarkers 2015; 19:535.

      590 590. Tatour Y, Tamaiev J, Shamaly S, et al. A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. Mol Vis 2019; 25:155.

      591 591. Sparks TN. Expanded carrier screening: counseling and considerations. Hum Genet 2020; 139:1131.

      592 592. Tayoun AA, Mason‐Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet 2020; 139:1149.

      593 593. Simioni P, Prandoni P, Lensing AW, et al. The risk of recurrent venous thromboembolism in patients with an Arg5066Glnmutation in the gene for factor V (factor V Leiden). N Engl J Med 1997; 336:399.

      594 594. Desch KC, Ozel AB, Halvorsen M, et al. Whole‐exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood 2020; 136:533.

      595 595. Veldhuisen B, Saris JJ, deHaij S, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997; 61:547.

      596 596. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange–Nielsen cardioauditory syndrome. Nat Genet 1997; 15:186.

      597 597. Wallace E, Howard L, Liu M, et al. Long QT syndrome: genetics and future perspective. Pediatr Cardiol 2019; 40:1419.

      598 598. Rebours V, Boutron‐Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut 2009; 58:97.

      599 599. Migeon BR. X‐linked diseases: susceptible females. Genet Med 2020; 22:1156.

      600 600. Pinckers A. X‐linked progressive cone dystrophy. Doc Ophthalmol Proc Ser 1982; 33:399.

      601 601. El‐Deiry SS, Naidu S, Blevins LS, et al. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. J Clin Endocrinol Metab 1997; 82:856.

      602 602. Menage P, Carreau V, Tourbah A, et al. Les adrenoleucodystrophies heterozygotes symptomatiques de l'adulte: 10 cas. Rev Neurol 1993; 149:445.

      603 603. Hasstedt SJ, Atkin CL, San Juan AC Jr. Genetic heterogeneity among kindreds with Alport syndrome. Am J Hum Genet 1986; 38:940.

      604 604. Patel RR, Hovijitra S, Kafrawy AH, et al. X‐linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic and histopathologic report. J Prosthet Dent 1991; 66:398.

      605 605. Hennekam RC, Barth PG, van Lookeren Campagne W, et al. A family with severe X‐linked arthrogryposis. Eur J Pediatr 1991; 150:656.

      606 606. Gibbons RJ, Suthers GK, Wilkie AOM, et al. X‐linked alpha‐thalassemia/mental retardation (ATR‐X) syndrome: location to Xq12–q21.31 by X inactivation and linkage analysis. Am J Hum Genet 1992; 51:1136.

      607 607. Mathews KD, Ardinger HH, Nishimura DY, et al. Linkage localization of Borjeson–Forssman–Lehmann syndrome. Am J Med Genet 1989; 34:470.

      608 608. Karna J. Choroideremia: a clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol 1986; 176(Suppl):1.

      609 609. Romera MG, Martin MM, Gonzalez E. Chronic granulomatous disease: a case study of a symptomatic carrier. J Invest Allerg Clin Immunol 1997; 7:57.

      610 610. Lovas JG, Issekutz A, Walsh N, et al. Lupus erythematosus‐like oral mucosal and skin lesions in a carrier of chronic granulomatous disease. Chronic granulomatous disease carrier genodermatosis. Oral Surg Oral Med Oral Pathol Oral Rad Endod 1995; 80:78.

      611 611. Marciano BE, Zerbe CS, Falcone EL, et al. X‐linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol 2018; 141:365.

      612 612. Rollnick BR, Kaye CI. Mendelian inheritance of isolated nonsyndromic cleft palate. Am J Med Genet