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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: hock dh. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J. Van Bergen NJ, et al. Among authors: hock dh. J Exp Med. 2020 Oct 5;217(10):e20192040. doi: 10.1084/jem.20192040. J Exp Med. 2020. PMID: 32639540 Free PMC article.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: hock dh. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: hock dh. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
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