Austin-Tse CA, Jobanputra V, Bernstein JA et al (2022) Best practices for the interpretation and reporting of clinical whole genome sequencing. Npj Genom Med 7:27. https://doi.org/10.1038/s41525-022-00295-z

Article  PubMed  PubMed Central  Google Scholar 

Gonzaga-Jauregui C, Zepeda Mendoza CJ (2021) Genomic sequencing of rare diseases. In: Gonzaga-Jauregui C, Lupski JR (eds) Genomics of rare diseases: understanding disease genetics using genomic approaches. Academic Press, Cambridge, pp 61–95

Chapter  Google Scholar 

GUaRDIAN Consortium, Sivasubbu S, Scaria V (2019) Genomics of rare genetic diseases—experiences from India. Hum Genom 13:52. https://doi.org/10.1186/s40246-019-0215-5

Article  CAS  Google Scholar 

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA et al (2010) Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 31(10):1142–1154. https://doi.org/10.1002/humu.21328

Article  CAS  PubMed  PubMed Central  Google Scholar 

Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R et al (2013) Implementing genomic medicine in the clinic: the future is here. Genet Med 15(4):258–267. https://doi.org/10.1038/gim.2012.157

Article  PubMed  PubMed Central  Google Scholar 

Marafi D (2024) Founder mutations and rare disease in the Arab world. Dis Model Mech 17(6):dmm050715. https://doi.org/10.1242/dmm.050715

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nisar H, Wajid B, Shahid S, Anwar F, Wajid I, Khatoon A et al (2021) Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases. Exp Biol Med (Maywood) 246(24):2610–2617. https://doi.org/10.1177/15353702211040046

Article  CAS  PubMed  PubMed Central  Google Scholar 

Popejoy AB, Fullerton SM (2016) Genomics is failing on diversity. Nature 538(7624):161–164. https://doi.org/10.1038/538161a

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rezapour A, Souresrafil A, Barzegar M, Sheikhy-Chaman M, Tatarpour P (2023) Economic evaluation of next-generation sequencing techniques in diagnosis of genetic disorders: a systematic review. Clin Genet 103(5):513–528. https://doi.org/10.1111/cge.14313

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee (2015) 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 17(5):405–424.https://doi.org/10.1038/gim.2015.30

Riess O, Sturm M, Menden B, Liebmann A, Demidov G et al (2024) Genomes in clinical care. Npj Genom Med 9(1):20. https://doi.org/10.1038/s41525-024-00402-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rodan LH, Stoler J, Chen E, Geleske T (2025) Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics 156(1):e2025072219. https://doi.org/10.1542/peds.2025-072219

Article  PubMed  Google Scholar 

Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AA, Cavalcanti DP (2015) Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.36954

Article  PubMed  Google Scholar 

Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K et al (2017) Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 19(8):867–874. https://doi.org/10.1038/gim.2016.221

Article  PubMed  Google Scholar 

Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K et al (2024) The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet 111(7):1271–1281. https://doi.org/10.1016/j.ajhg.2024.05.006

Article  CAS  PubMed  PubMed Central  Google Scholar 

Twigg SRF, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP et al (2013) Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet 45(3):308–313. https://doi.org/10.1038/ng.2539

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F et al (2010) Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet 47(1):30–37. https://doi.org/10.1136/jmg.2009.068395

Article  CAS  PubMed  Google Scholar 

World Bank (2024) World Bank country and lending groups. World Bank Group. https://datahelpdesk.worldbank.org/knowledgebase/articles/906519-world-bank-country-and-lending-groups. Accessed 2 Sep 2025.

World Health Organization (2022) Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues. A report of the WHO Science Council. World Health Organization, Geneva

Xue Y, Cai T, Shi S, Wang W, Zhang Y, Mao T et al (2011) Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis 6:20. https://doi.org/10.1186/1750-1172-6-20

Article  PubMed  PubMed Central  Google Scholar