Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, et al. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2016;18(6):545–53.
Antshel KM, Russo N. Autism spectrum disorders and ADHD: overlapping phenomenology, diagnostic issues, and treatment considerations. Curr Psychiatry Rep. 2019;21(5):34.
Baker, Schaumburg, Munn-Chernoff. Genetics of anorexia nervosa. Curr Psychiatry Rep. 2017;19:84.
Butler MG. Imprinting disorders: a mini-review. Assist Reprod Genet. 2009;26:477–86.
Butler MG. Imprinting disorders in humans: a review. Curr Opin Pediatr. 2020;32(6):719–29.
Char DS. Whole-genome sequencing in critically ill infants and emerging ethical challenges. Semin Perinatol. 2015;39(8):573–5.
Chen E, Saul RA. Building an accurate family history, constructing a pedigree: an overview for primary care. Time out genetics webinar series presented by the genetics in primary care institute. April 26, 2012.
Corfield J. Base pairs. Retrieved from https://www.britannica.com/science/base-pair on July 31, 2021.
Correa H. Li-Fraumeni syndrome. J Pediatr Genet. 2016;5(2):84–8.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, et al. Familial adenomatous polyposis syndrome: An update and review of extraintestinal manifestations. Arch Pathol Lab Med. 2019;143(11):1382–98.
Farmer MB, Bonadies DC, Mahon SM, Baker MJ, Ghate SM, Munro C, et al. Adverse events in genetic testing: the fourth case series. Cancer J. 2019;25(4):231–6.
Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016;1366(1):49–60.
Foley C, Corvin A, Nakagome S. Genetics of schizophrenia: ready to translate? Curr Psychiatry Rep. 2017;19(9):61.
García-Giménez JL, Seco-Cervera M, Tollefsbol TO, Romá-Mateo C, Peiró-Chova L, Lapunzina P, Pallardó FV. Epigenetic biomarkers: current strategies and future challenges for their use in the clinical laboratory. Crit Rev Clin Lab Sci. 2017;54(7–8):529–50.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, et al. Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease. Am J Hum Genet. 2019;104(3):466–83.
Govindarajan R, Duraiyan J, Palanisamy M. Microarray and its application. J Pharm Bioallied Sci. 2012;4(2):S310–2.
Grimm O, Krantz TM, Reif A. Genetics of ADHD: what should the clinician know? Curr Psychiatry Rep. 2020;22:18.
Hebbar M, Mefford HC. Recent advances in epilepsy genomics and genetic testing. F1000Res. 2020;9.:F1000 Faculty Rev:185.
Herman I, Lopez MA, Marafi D, Pehlivan D, Calame DG, Abid F, Lotze TE. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021;63(3):304–10.
Institute for Healthcare Improvement. Retrieved from http://www.ihi.org/resources/Pages/Tools/Ask-Me-3-Good-Questions-for-Your-Good-Health.aspx on July 1, 2021.
Jin MW, Xu SM, An Q, Wang P. A review of risk factors for childhood leukemia. Eur Rev Med Pharmacol Sci. 2016;20(18):3760–4.
Khan Academy. Microarray. Retrieved from https://www.khanacademy.org/test-prep/mcat/biomolecules/dna-technology/v/hybridization-microarray, 2021.
Kim AY, Bodurtha JN. Dysmorphology. Pediatr Rev. 2019;40(12):609–18.
Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic diagnosis for pediatric disorders: revolution and evolution. Front Pediatr. 2020;8:373.
Latchford A, Cohen S, Auth M, Scaillon M, Viala J, Daniels R, et al. Management of Peutz-Jeghers Syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):442–52.
Lee BH, Smith T, Paciorkowski AR. Autism spectrum disorder and epilepsy: disorders with a shared biology. Epilepsy Behav. 2015;47:191–201.
Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201–12.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018;20(4):435–43.
Lowther C, Costain G, Baribeau DA, Bassett AS. Genomic disorders in psychiatry-what does the clinician need to know? Curr Psychiatry Rep. 2017;19(11):82.
Marjonen H, Auvinen P, Kahila H, Tšuiko O, Kõks S, Tiirats A, et al. rs10732516 polymorphism at the IGF2/H19 locus associates with genotype-specific effects on placental DNA methylation and birth weight of newborns conceived by assisted reproductive technology. Clin Epigenetics. 2018;10:80.
Meier SM, Deckert J. Genetics of anxiety disorder. Curr Psychiatry Rep. 2019;21:16.
Merkel EA, Mohan LS, Shi K, Panah E, Zhang B, Gerami P. Paediatric melanoma: clinical update, genetic basis, and advances in diagnosis. Lancet Child Adolesc Health. 2019;3(9):646–54.
Mone F, Quinlan-Jones E, Kilby MD. Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: a review. Eur J Obstet Gynecol Reprod Biol. 2018;231:19–24.
Mullin N, Lewis CM. Genetics of depression: Progress at last. Curr Psychiatry Rep. 2017;19:43.
Myers KA, Johnstone DL, Dyment DA. Epilepsy genetics: current knowledge, applications, and future directions. Clin Genet. 2019;95(1):95–111.
Pauly R, Schwartz CE. The future of clinical diagnosis: moving functional genomics approaches to the bedside. Clin Lab Med. 2020;40(2):221–30.
Payne K, Gavan SP, Wright SJ, Thompson AJ. Cost-effectiveness analyses of genetic and genomic diagnostic tests. Nat Rev Genet. 2018;19(4):235–46.
Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A. Opportunities and challenges of whole-genome and -exome sequencing. BMC Genet. 2017;18(1):14.
Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole-genome sequencing and precision neonatology. Semin Perinatol. 2015;39(8):623–31.
Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019;11(6):844.
Qi Y, Zheng Y, Li Z, Liu Z, Xiong L. Genetic studies of tic disorders and Tourette syndrome. Methods Mol Biol. 2019;2011:547–71.
Ravi B, Antonellis A, Sumner CJ, Lieberman A. Genetic approaches to the treatment of neuromuscular diseases-evaluation of current practice and literature review. Neuromuscul Disord. 2019;29(1):14–20.
Roades WA, Steuber CP. Clinical assessment and differential diagnosis of the child with suspected cancer. In: Blaney SN, Helman LL, Adamson PC, editors. Pizzo and Poplack's principles and practice of Pediatric oncology. 8th ed. Philadelphia: Lippincott; 2020. p. 106–13.
Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, et al. Progress in understanding and treating SCN2A-mediated disorders. Trends Neurosci. 2018;41(7):442–56.
Shearer AE, Smith RJ. Genetics: advances in genetic testing for deafness. Curr Opin Pediatr. 2012;24(6):679–86.
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441–50.
Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, et al. Clinical application of genome and exome sequencing as a diagnostic tool for Pediatric patients: a scoping review of the literature. Genet Med. 2019;21(1):3–16.
Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H. Hereditary melanoma: update on syndromes and management: genetics of familial atypical multiple mole melanoma syndromes. J Am Acad Dermatol. 2016;74(3):395–407.
Stoler JM. Prenatal and postnatal genetic testing: why, how, and when? Pediatr Ann. 2017;46(11):e423–7.
Teekakirikul P, Zhu W, Huang HC, Fung E. Hypertrophic cardiomyopathy: An overview of genetics and management. Biomol Ther. 2019;9(12):878.
The Jackson Laboratory. Retrieved from www.jax.org/ccep, on July 1, 2021.
Yohe S, Thyagarajan B. Review of clinical next-generation sequencing. Arch Pathol Lab Med. 2017;141(11):1544–57.
Zoghbi HY, Beaudel AL. Epigenetics and human disease, 2018. Cold Spring Harb Perspect Biol. 2016;8(2):a019497.