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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: duis j. 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.
Premature Identical Twin Neonates With Sleep Apnea.
Ramesh A, Diaz J, Nogee L, Duis J, Jang DS, Lawson C, Maegawa G. Ramesh A, et al. Among authors: duis j. Clin Pediatr (Phila). 2017 Oct;56(11):1075-1078. doi: 10.1177/0009922817698810. Epub 2017 Mar 20. Clin Pediatr (Phila). 2017. PMID: 28871878 Free PMC article. No abstract available.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: duis j. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
A multidisciplinary approach to the clinical management of Prader-Willi syndrome.
Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, Childers A, Shelton AR, Bingham NC, Shoemaker AH, Miller JL. Duis J, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e514. doi: 10.1002/mgg3.514. Epub 2019 Jan 29. Mol Genet Genomic Med. 2019. PMID: 30697974 Free PMC article.
45 results