1. Affymetrix (2017) website. Chromosome microarray. http://www.affymetrix.com/products/index.affx
2. Alos N, Moisan AM, Ward L, Desrochers M, Legault L, Leboeuf G, Van Vliet G, Simard J (2000) A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. J Clin Endocrinol Metab 85(5):1968–1974
3. Ankala A, Tamhankar PM, Valencia CA, Rayam KK, Kumar MM, Hegde MR (2015) Clinical applications and implications of common and founder mutations in Indian subpopulations. Hum Mutat 36(1):1–10
4. Bird TD (1993–2021) Hereditary Ataxia overview. 1998 Oct 28 [Updated 2019 Jul 25]. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1138/
5. Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BB (2004) Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation. Genet Med 6(5):426–430