Page 48 - Read Online

Casas-Alba et al. J Transl Genet Genom 2022;6:322-32 https://dx.doi.org/10.20517/jtgg.2022.03 Page 332

43. Kernohan KD, Frésard L, Zappala Z, et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy
with progressive myoclonic epilepsy. Hum Mutat 2017;38:611-4. DOI PubMed PMC
44. Lee H, Huang AY, Wang LK, et al; Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med 2020;22:490-9. DOI PubMed PMC
45. Frésard L, Smail C, Ferraro NM, et al; Identification of rare-disease genes using blood transcriptome sequencing and large control
cohorts.
Nat Med 2019;25:911-9. DOI PubMed
46. Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. New diagnostic approaches for undiagnosed rare genetic
diseases. Annu Rev Genomics Hum Genet 2020;21:351-72. DOI PubMed
47. Mischak H, Allmaier G, Apweiler R, et al. Recommendations for biomarker identification and qualification in clinical proteomics. Sci
Transl Med 2010;2:46ps42. DOI PubMed
48. Caterino M, Chandler RJ, Sloan JL, et al. The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in
patient livers. Mol Biosyst 2016;12:566-74. DOI PubMed PMC
49. Caterino M, Pastore A, Strozziero MG, et al. The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
J Inherit Metab Dis 2015;38:969-79. DOI PubMed
50. Zhan X, Long Y, Lu M. Exploration of variations in proteome and metabolome for predictive diagnostics and personalized treatment
algorithms: Innovative approach and examples for potential clinical application. J Proteomics 2018;188:30-40. DOI PubMed
51. Costanzo M, Zacchia M, Bruno G, Crisci D, Caterino M, Ruoppolo M. Integration of proteomics and metabolomics in exploring
genetic and rare metabolic diseases. Kidney Dis (Basel) 2017;3:66-77. DOI PubMed PMC
52. Marcke C, Collard A, Vikkula M, Duhoux FP. Prevalence of pathogenic variants and variants of unknown significance in patients at
high risk of breast cancer: A systematic review and meta-analysis of gene-panel data. Crit Rev Oncol Hematol 2018;132:138-44. DOI
PubMed
53. Richards S, Aziz N, Bale S, et al; Standards and guidelines for the interpretation of sequence variants: a joint consensus
recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med 2015;17:405-24. DOI PubMed PMC
54. Klee EW, Cousin MA, Pinto E Vairo F, et al. Impact of integrated translational research on clinical exome sequencing. Genet Med
2021;23:498-507. DOI PubMed
55. Yubero D, Natera-de Benito D, Pijuan J, et al. The Increasing impact of translational research in the molecular diagnostics of
neuromuscular diseases. Int J Mol Sci 2021;22:4274. DOI PubMed PMC
56. Board of Directors. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of
the American College of Medical Genetics and Genomics. Genet Med 2017;19:721-2. DOI PubMed
57. Philippakis AA, Azzariti DR, Beltran S, et al. The matchmaker exchange: a platform for rare disease gene discovery. Hum Mutat
2015;36:915-21. DOI PubMed PMC
58. Karczewski KJ, Francioli LC, Tiao G, et al; The mutational constraint spectrum quantified from variation in 141; 456 humans.
Nature 2020;581:434-43. DOI PubMed
59. Lek M, Karczewski KJ, Minikel EV, et al; Analysis of protein-coding genetic variation in 60; 706 humans.
Nature 2016;536:285-91. DOI PubMed