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Page 1
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: coman d. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: coman d. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223
Fumarase deficiency in dichorionic diamniotic twins.
Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ. Tregoning S, et al. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4. Twin Res Hum Genet. 2013. PMID: 24182348
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: coman d. Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21. Genet Med. 2020. PMID: 32313153 Free article.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Lalani SR, et al. Among authors: coman d. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805781 Free PMC article.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS. Pop A, et al. Among authors: coman d. J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13. J Inherit Metab Dis. 2018. PMID: 29238895 Free PMC article.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909962 Free PMC article.
233 results