Kingma SDK, Bodamer OA, Wijburg FA. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015;29(2):145–57.

Article  PubMed  Google Scholar 

Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primer. 2018;4(1):27.

Article  Google Scholar 

Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, et al. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. BMC Med Genet. 2018;19(1):178.

Article  PubMed  PubMed Central  Google Scholar 

Sheth J, Nair A, Bhavsar R, Godbole K, Datar C, Nampoothiri S, et al. Lysosomal storage disorders identified in adult population from India: experience of a tertiary genetic centre and review of literature. JIMD Rep. 2024. https://doi.org/10.1002/jmd2.12407.

Article  PubMed  PubMed Central  Google Scholar 

Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471–86.

Article  CAS  PubMed  Google Scholar 

Sheth J, Nair A. Treatment for lysosomal storage disorders. Curr Pharm Des. 2020;26(40):5110–8.

Article  CAS  PubMed  Google Scholar 

Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J Pediatr. 2015;82(6):525–9.

Article  PubMed  Google Scholar 

Sheth J, Nair A, Jee B. Lysosomal storage disorders: from biology to the clinic with reference to India. Lancet Reg Health Southeast Asia. 2023;9:5.

Google Scholar 

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, et al. Lysoplex: an efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015;11(6):928–38.

Article  PubMed  PubMed Central  Google Scholar 

Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, et al. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis. 2014;25(9):59.

Article  Google Scholar 

La Cognata V, Cavallaro S. A comprehensive, targeted NGS approach to assessing molecular diagnosis of lysosomal storage diseases. Genes. 2021;12(11):1750.

Article  PubMed  PubMed Central  Google Scholar 

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, et al. Assessing lysosomal disorders in the NGS era: identification of novel rare variants. Int J Mol Sci. 2020;21(17):6355.

Article  PubMed  PubMed Central  Google Scholar 

Zampieri S, Cattarossi S, Bembi B, Dardis A. GBA Analysis in next-generation era: pitfalls, challenges, and possible solutions. J Mol Diagn JMD. 2017;19(5):733–41.

Article  CAS  PubMed  Google Scholar 

Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, et al. Single molecule molecular inversion probes for high throughput germline screenings in dystonia. Front Neurol. 2019;10:1332.

Article  PubMed  PubMed Central  Google Scholar 

Waalkes A, Penewit K, Wood BL, Wu D, Salipante SJ. Ultrasensitive detection of acute myeloid leukemia minimal residual disease using single molecule molecular inversion probes. Haematologica. 2017;102(9):1549–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hiatt JB, Pritchard CC, Salipante SJ, O’Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res. 2013;23(5):843–54.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oud MS, Ramos L, O’Bryan MK, McLachlan RI, Okutman Ö, Viville S, et al. Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Hum Mutat. 2017;38(11):1592–605.

Article  CAS  PubMed  Google Scholar 

Sheth J, Patel P, Sheth F, Shah R. Lysosomal storage disorders. Indian Pediatr. 2004;41(3):260–5.

PubMed  Google Scholar 

Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51–63.

Article  PubMed  Google Scholar 

Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr. 2012;49(10):799–804.

Article  PubMed  Google Scholar 

Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, et al. Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med Off J Am Coll Med Genet. 2020;22(3):453–61.

Google Scholar 

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boyle EA, O’Roak BJ, Martin BK, Kumar A, Shendure J. MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing. Bioinformatics. 2014;30(18):2670–2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338(6114):1619–22.

Article  PubMed  PubMed Central  Google Scholar 

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinforma Oxf Engl. 2009;25(14):1754–60.

Article  CAS  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smedley D, Jacobsen JOB, Jäger M, Köhler S, Holtgrewe M, Schubach M, et al. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc. 2015;10(12):2004–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fowler A. DECoN: a detection and visualization tool for exonic copy number variants. Methods Mol Biol Clifton NJ. 2022;2493:77–88.

Article  CAS  Google Scholar 

Biesecker LG, Harrison SM, ClinGen Sequence Variant Interpretation Working Group. The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Genet Med Off J Am Coll Med Genet. 2018;20(12):1687–8.

Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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 Off J Am Coll Med Genet. 2015;17(5):405–24.

Google Scholar 

Zhang J, Yao Y, He H, Shen J. Clinical interpretation of sequence variants. Curr Protoc Hum Genet. 2020;106(1): e98.

Article  PubMed  PubMed Central  Google Scholar 

Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinform Oxf Engl. 2012;28(21):2747–54.

Article  CAS  Google Scholar 

Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, de Souza CFM, et al. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. Genet Mol Biol. 2019;42(1 suppl 1):197–206.

Article  PubMed  PubMed Central  Google Scholar 

Zanetti A, D’Avanzo F, Bertoldi L, Zampieri G, Feltrin E, De Pascale F, et al. Setup and validation of a targeted next-generation sequencing approach for the diagnosis of lysosomal storage disorders. J Mol Diagn JMD. 2020;22(4):488–502.

Article  CAS  PubMed  Google Scholar 

Alcántara-Ortigoza MA, García-de Teresa B, González-Del Angel A, Berumen J, Guardado-Estrada M, Fernández-Hernández L, et al. Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. Clin Genet. 2016;89(5):574–83.

Article  PubMed  Google Scholar 

Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, et al. Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. Hum Mutat. 2017;38(11):1491–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med Off J Am Coll Med Genet. 2015;17(11):880–8.

Google Scholar 

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJH, et al. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. Mol Genet Metab. 2013;110(1–2):78–85.

Article  CAS  PubMed