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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics; Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. Heimer G, et al. Among authors: cowley mj. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3. Am J Hum Genet. 2016. PMID: 27817865 Free PMC article.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Balasubramaniam S, et al. Among authors: cowley mj. J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13. J Inherit Metab Dis. 2017. PMID: 28409271
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: cowley mj. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study; Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J. Palmer EE, et al. Among authors: cowley mj. Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198722 Free PMC article.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T. Ewans LJ, et al. Among authors: cowley mj. Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595814 Free article.
311 results