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Page 1
Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Braden RO, et al. Among authors: amor dj. Dev Med Child Neurol. 2021 Dec;63(12):1417-1426. doi: 10.1111/dmcn.14955. Epub 2021 Jun 9. Dev Med Child Neurol. 2021. PMID: 34109629 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: amor dj. 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
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE. Mefford HC, et al. Among authors: amor dj. J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180641 Free PMC article.
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ. Scerri T, et al. Among authors: amor dj. Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12. Ann Clin Transl Neurol. 2015. PMID: 26000329 Free PMC article.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG. Ravenscroft G, et al. Among authors: amor dj. Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21. Neurogastroenterol Motil. 2018. PMID: 29781137
Characterization of speech and language phenotype in children with NRXN1 deletions.
Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Brignell A, et al. Among authors: amor dj. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30358070
304 results