N-of-1 genomic medicine for the rare pediatric genetic diseases

Bibliography

• Online Mendelian Inheritance in Man. OMIM®, Baltimore, MD: mcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. 2104. Available from: http://omim.org/statistics/update [Cited 11 August 2014]
   Google Scholar
• Batshaw ML Groft SC, Krischer JP. Research into rare diseases of childhood. JAMA 2014;311(17):1729-30
   Google Scholar
• Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of acuity-guided exome and genome sequencing for etiologic diagnosis of neurodevelopmental disorders. Sci Transl Med 2014; In Press
   Google Scholar
• Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4(154):154ra135
   PubMed Web of Science ®Google Scholar
• Robinson PN, Krawitz P, Mundlos S. Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 2011;80(2):127-32
   Google Scholar
• Soden SE Saunders CJ, Dinwiddie DL, Miller NA, et al. A systematic approach to implementing monogenic genomic medicine: genotype-driven diagnosis of genetic diseases. J Genomes Exomes 2012;1:15-24
   Google Scholar
• Koren G, Cairns J, Chitayat D, et al. Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet 2006;368(9536):704
   PubMed Web of Science ®Google Scholar
• Crews KR, Gaedigk A, Dunnenberger HM, et al. Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy:2014 update. Clin Pharmacol Ther 2014;95(4):376-82
   PubMed Web of Science ®Google Scholar
• Bhatt A. Evolution of clinical research: a history before and beyond james lind. Perspect Clin Res 2010;1(1):6-10
   Google Scholar
• Collier R. Legumes, lemons and streptomycin: a short history of the clinical trial. CMAJ 2009;180(1):23-4
   Google Scholar
• Milne I. Who was James Lind, and what exactly did he achieve? 2012. Available from: www.jameslindlibrary.org [Cited 11 August 2014]
   Google Scholar
• Seidelman WE. Medicine and murder in the third reich. Dimensions (N Y N Y) 1999;13(1):9-14
   Google Scholar
• Hardicre J. An overview of research ethics and learning from the past. Br J Nurs 2014;23(9):483-6
   PubMedGoogle Scholar
• White RM. Unraveling the tuskegee study of untreated syphilis. Arch Intern Med 2000;160(5):585-98
   Google Scholar
• Brannon AR, Sawyers CL. "N of 1" case reports in the era of whole-genome sequencing. J Clin Invest 2013;123(11):4568-70
   Google Scholar
• Debs R, Depienne C, Rastetter A, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010;67(1):126-30
   PubMedGoogle Scholar
• Deffenbacher B. Successful experimental treatment of congenital ichthyosis in an infant. BMJ Case Rep 2013;2013
   Google Scholar
• Haberle J, Shahbeck N, Ibrahim K, et al. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet J Rare Dis 2012;7:48
   PubMed Web of Science ®Google Scholar
• Nixdorf DR, Sobieh R, Gierthmuhlen J. Using an n-of-1 trial to assist in clinical decision making for patients with orofacial pain. J Am Dent Assoc 2012;143(3):259-61
   Google Scholar
• Gabler NB, Duan N, Vohra S, Kravitz RL. N-of-1 trials in the medical literature: a systematic review. Med Care 2011;49(8):761-8
   PubMed Web of Science ®Google Scholar
• Duan N, Kravitz RL, Schmid CH. Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research. J Clin Epidemiol 2013;66(8 Suppl):S21-8
   PubMed Web of Science ®Google Scholar
• Barlow DH, Hersen M. Single case experimental designs: strategies for studying behavior change. 2nd edition. Pergamon Press; New York: 1984. p. 419
   Google Scholar
• Guyatt G, Sackett D, Taylor DW, et al. Determining optimal therapy–randomized trials in individual patients. N Engl J Med 1986;314(14):889-92
   PubMed Web of Science ®Google Scholar
• Kravitz RL, Duan N, Niedzinski EJ, et al. What ever happened to N-of-1 trials? Insiders’ perspectives and a look to the future. Milbank Q 2008;86(4):533-55
   PubMed Web of Science ®Google Scholar
• Cook DJ. Randomized trials in single subjects: the N of 1 study. Psychopharmacol Bull 1996;32(3):363-7
   Google Scholar
• Dallery J, Cassidy RN, Raiff BR. Single-case experimental designs to evaluate novel technology-based health interventions. J Med Internet Res 2013;15(2):e22
   PubMed Web of Science ®Google Scholar
• Lillie EO, Patay B, Diamant J, et al. The n-of-1 clinical trial: the ultimate strategy for individualizing medicine? Per Med 2011;8(2):161-73
   PubMed Web of Science ®Google Scholar
• Scuffham PA, Nikles J, Mitchell GK, et al. Using N-of-1 trials to improve patient management and save costs. J Gen Intern Med 2010;25(9):906-13
   Google Scholar
• Sedgwick P. "n of 1" trials. BMJ 2012;344:e844
   Google Scholar
• Chen X, Chen P. A comparison of four methods for the analysis of N-of-1 trials. PLoS One 2014;9(2):e87752
   PubMed Web of Science ®Google Scholar
• Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, et al. Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol Cancer Ther 2011;10(1):3-8
   PubMed Web of Science ®Google Scholar
• Zucker DR, Schmid CH, McIntosh MW, et al. Combining single patient (N-of-1) trials to estimate population treatment effects and to evaluate individual patient responses to treatment. J Clin Epidemiol 1997;50(4):401-10
   PubMed Web of Science ®Google Scholar
• Lee JS. Genomic profiling of liver cancer. Genomics Inform 2013;11(4):180-5
   Google Scholar
• Lee SH, Sim SH, Kim JY, et al. Application of cancer genomics to solve unmet clinical needs. Genomics Inform 2013;11(4):174-9
   Google Scholar
• Patel L, Parker B, Yang D, Zhang W. Translational genomics in cancer research: converting profiles into personalized cancer medicine. Cancer Biol Med 2013;10(4):214-20
   Google Scholar
• Laughon MM, Benjamin DK Jr. Mechanisms to provide safe and effective drugs for children. Pediatrics 2014;134(2):e562-3
   PubMed Web of Science ®Google Scholar
• Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953;265(6790):812-13
   PubMedGoogle Scholar
• Blainey JD, Gulliford R. Phenylalanine-restricted diets in the treatment of phenylketonuria. Arch Dis Child 1956;31(160):452-66
   Google Scholar
• Woolf LI, Griffiths R, Moncrieff A, et al. The dietary treatment of phenylketonuria. Arch Dis Child 1958;33(167):31-45
   Google Scholar
• Kotulska K, Borkowska J, Jozwiak S. Possible prevention of tuberous sclerosis complex lesions. Pediatrics 2013;132(1):e239-42
   PubMed Web of Science ®Google Scholar
• Dazert E, Hall MN. mTOR signaling in disease. Curr Opin Cell Biol 2011;23(6):744-55
   PubMed Web of Science ®Google Scholar
• Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 2013;381(9861):125-32
   PubMed Web of Science ®Google Scholar
• Lauriol J, Kontaridis MI. PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? Trends Cardiovasc Med 2011;21(4):97-104
   Google Scholar
• Weston MC, Chen H, Swann JW. Multiple roles for mammalian target of rapamycin signaling in both glutamatergic and GABAergic synaptic transmission. J Neurosci 2012;32(33):11441-52
   Google Scholar
• Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013;14:355-69
   PubMed Web of Science ®Google Scholar
• Schramm C, Fine DM, Edwards MA, et al. The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. Am J Physiol Heart Circ Physiol 2012;302(1):H231-43
   Google Scholar
• Smith LD SC, Dinwiddie DL, Atherton AM, et al. Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. J Genomes Exomes 2013;2:63-72
   Google Scholar
• Willoughby JO, Pope KJ, Eaton V. Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study. Epilepsia 2003;44(9):1238-40
   Google Scholar
• Erickson CA, Mullett JE, McDougle CJ. Brief report: acamprosate in fragile X syndrome. J Autism Dev Disord 2010;40(11):1412-16
   Google Scholar
• Lemonnier E, Robin G, Degrez C, et al. Treating fragile X syndrome with the diuretic bumetanide: a case report. Acta Paediatr 2013;102(6):e288-90
   Google Scholar
• Carandang CG, Scholten MC. Metyrosine in psychosis associated with 22q11.2 deletion syndrome: case report. J Child Adolesc Psychopharmacol 2007;17(1):115-20
   Google Scholar
• Berdasco M, Esteller M. Genetic syndromes caused by mutations in epigenetic genes. Hum Genet 2013;132(4):359-83
   PubMed Web of Science ®Google Scholar
• Huidobro C, Fernandez AF, Fraga MF. The role of genetics in the establishment and maintenance of the epigenome. Cell Mol Life Sci 2013;70(9):1543-73
   Google Scholar
• Finkel RS. Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 2010;25(9):1158-64
   PubMed Web of Science ®Google Scholar
• Kerem E, Hirawat S, Armoni S, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372(9640):719-27
   PubMed Web of Science ®Google Scholar
• Palmer E, Wilhelm JM, Sherman F. Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics. Nature 1979;277(5692):148-50
   Google Scholar
• Singh A, Ursic D, Davies J. Phenotypic suppression and misreading Saccharomyces cerevisiae. Nature 1979;277(5692):146-8
   PubMed Web of Science ®Google Scholar
• PTC Therapeutics. PTC therapeutics receives conditional approval in the European Union for Translarna™ for the treatment of nonsense mutation duchenne muscular dystrophy. 2014. Available from: http://ir.ptcbio.com/ReleaseDetail.cfm?ReleaseID=863914 [Cited 4 August 2014]
   Google Scholar
• Bartolomeo R, Polishchuk EV, Volpi N, et al. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis 2013;36(2):363-71
   PubMed Web of Science ®Google Scholar
• Gregory-Evans CY, Wang X, Wasan KM, et al. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 2014;124(1):111-16
   PubMed Web of Science ®Google Scholar
• Micale L, Augello B, Maffeo C, et al. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients. Hum Mutat 2014;35(7):841-50
   Web of Science ®Google Scholar
• Yuste-Checa P, Medrano C, Gamez A, et al. Antisense-mediated therapeutic pseudoexon skipping in Tmem165-Cdg. Clin Genet 2014. [Epub ahead of print]
   Google Scholar
• Collins F. Francis Collins says medicine in the future will be tailored to your genes:the director of the National Institutes of Health says cheaper DNA sequencing will make personalized care routine. Wall Street J 2014. Available from: http://m.wsj.com/article_email/francis-collins-says-medicine-in-the-future-will-be-tailored-to-your-genes-1404763139-IMyQjAxMTA0MDIwOTEyNDkyWj
   Google Scholar
• Hurko O. Drug development for rare mitochondrial disorders. Neurotherapeutics 2013;10(2):286-306
   PubMed Web of Science ®Google Scholar
• Castellotti B, Mariotti C, Rimoldi M, et al. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics 2011;12(3):193-201
   Google Scholar
• Le Ber I, Dubourg O, Benoist JF, et al. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 2007;68(4):295-7
   Google Scholar
• Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 2006;67(3):480-4
   PubMed Web of Science ®Google Scholar
• Schulze A, Ebinger F, Rating D, Mayatepek E. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 2001;74(4):413-19
   PubMed Web of Science ®Google Scholar
• Stockler S, Isbrandt D, Hanefeld F, et al. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 1996;58(5):914-22
   PubMed Web of Science ®Google Scholar
• Battini R, Alessandri MG, Leuzzi V, et al. Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr 2006;148(6):828-30
   Google Scholar
• Smith LD. Unpublished observation. 2014
   Google Scholar
• Muhlhausen C, Salomons GS, Lukacs Z, et al. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis 2014;37(5):775-81
   Google Scholar
• Furujo M, Kinoshita M, Nagao M, Kubo T. S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report. Mol Genet Metab 2012;105(3):516-18
   Google Scholar
• Chamberlin ME, Ubagai T, Mudd SH, et al. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest 1996;98(4):1021-7
   Google Scholar
• Furujo M, Kinoshita M, Nagao M, Kubo T. Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine. Mol Genet Metab 2012;107(3):253-6
   Google Scholar
• Hazelwood S, Bernardini I, Shotelersuk V, et al. Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am J Med Genet 1998;75(4):395-400
   Google Scholar
• Varela-Rey M, Martinez-Lopez N, Fernandez-Ramos D, et al. Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide. Hepatology 2010;52(1):105-14
   Google Scholar
• He M, Smith LD, Chang R, et al. The role of sterol-C4-methyl oxidase in epidermal biology. Biochim Biophys Acta 2014;1841(3):331-5
   Google Scholar
• He M, Kratz LE, Michel JJ, et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest 2011;121(3):976-84
   PubMed Web of Science ®Google Scholar
• Schmid CH, Duan N. The DEcIDE metods center of N-0f-1 Guidance panel,. statistical design and analytic considerations of N-of-1 trials. In: Kravitz RL, Duan N, editors. Design and implementation of N-of-1 Trials: a user’s guide. Publication No.13(14)-EHC122-EF. Agency for Healthcare Research and Quality; Rockville, MD: 2014. p. 33-53
   Google Scholar
• Punja S EI, Duan N, Vohra S. The DEcIDE Methods Center N-of-1 Guidance Panel,. An ethical framework for N-of-1 trials: clincal care, quality improvement, or human subjects research? In: Kravitz RL, Duan N, editors. Design and implementation of N-of-1 Trials: a user’s guide. Publication no. 13(14)-EHC122-EF. Agency for Healthcare Research and Quality; Rockville, MD: 2014. p. 13-22
   Google Scholar