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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium; Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A. Lee RG, et al. Among authors: ferdinandusse s. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. McMillan HJ, et al. Among authors: ferdinandusse s. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90. Orphanet J Rare Dis. 2012. PMID: 23181892 Free PMC article.
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium; Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA. Lines MA, et al. Among authors: ferdinandusse s. Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635952 Free PMC article.
182 results