Page 276 - Demo

Chapter 827420. Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Vol. 18, Obesity Reviews. 2017. 21. von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, Müller AR, et al. Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review. Vol. 10, Movement Disorders Clinical Practice. 2023. 22. Moskowitz LJ, Jones EA. Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: A systematic review. Vol. 38, Research in Developmental Disabilities. 2015. 23. De Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND checklist. Pediatr Neurol. 2015. 24. de Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. N Engl J Med. 2012;367(20). 25. Romano C. The clinical evaluation of patients with mental retardation/intellectual disability. Monogr Hum Genet. 2010;18. 26. Moeschler JB, Shevell M, Schaefer GB, Bull MJ, Enns GM, Gruen JR, et al. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117(6). 27. Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021. 28. De Villiers J, Porteous M. Genetic testing of adults with intellectual disability. Psychiatrist. 2012;36(11). 29. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016;18(7). 30. Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, et al. Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. In: European Journal of Human Genetics. 2016. 31. Rojnueangnit K, Anthanont P, Khetkham T, Puttamanee S, Ittiwut C. Genetic diagnosis for adult patients at a genetic clinic. Cold Spring Harb Mol Case Stud. 2022;8(7):a006235. 32. Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, et al. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. Genet Med. 2021;23(6). 33. Peabody J, DeMaria L, Tamandong-LaChica D, Florentino J, Acelajado MC, Burgon T. Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders. Glob Pediatr Heal. 2015;2. 34. Wolfe K, Stueber K, McQuillin A, Jichi F, Patch C, Flinter F, et al. Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists. J Appl Res Intellect Disabil. 2018;31(2). 35. Reiff M, Ross K, Mulchandani S, Propert K, Pyeritz R, Spinner N, et al. Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet. 2013;83(1). 36. Pinzón-Espinosa J, van der Horst M, Zinkstok J, Austin J, Aalfs C, Batalla A, et al. Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians’ attitudes to sociocultural differences between patients across the globe. Vol. 12, Translational Psychiatry. 2022. 37. Navon D. How do genetic tests answer questions about neurodevelopmental differences? A sociological take. Dev Med Child Neurol. 2022;64(12):1462–9. 38. Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet. 2010;19(R2). 39. Kharazmi AA, Aslani S, Kristiansen MF, Dahl EE, Berner-Hansen M. Indications and diagnostic yield of small-bowel capsule endoscopy in a real-world setting. BMC Gastroenterol. 2020;20(1). Annelieke Muller sHL.indd 274 14-11-2023 09:08