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Page 1
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. Tolchin D, et al. Among authors: mcdonald mt. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442410 Free PMC article.
Clinical application of exome sequencing in undiagnosed genetic conditions.
Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Need AC, et al. Among authors: mcdonald mt. J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11. J Med Genet. 2012. PMID: 22581936 Free PMC article.
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID. DeScipio C, et al. Among authors: mcdonald mt. Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847950 Free PMC article.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN); Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Liu N, et al. Among authors: mcdonald mt. Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146. Hum Mol Genet. 2018. PMID: 29726930 Free PMC article.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T. Slone J, et al. Among authors: mcdonald mt. J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25. J Hum Genet. 2018. PMID: 30250212 Free PMC article.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K; Undiagnosed Diseases Network; Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. Ghosh SG, et al. Among authors: mcdonald mt. Eur J Hum Genet. 2021 Feb;29(2):271-279. doi: 10.1038/s41431-020-00717-5. Epub 2020 Sep 8. Eur J Hum Genet. 2021. PMID: 32901138 Free PMC article.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: mcdonald mt. Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Genet Med. 2021. PMID: 33299146 Free article.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: mcdonald mt. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
77 results