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Page 1
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: leventer rj. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GD, Scheffer IE. Mandelstam SA, et al. Among authors: leventer rj. AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8. doi: 10.3174/ajnr.A3427. Epub 2013 Jan 24. AJNR Am J Neuroradiol. 2013. PMID: 23348762 Free PMC article.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Taft RJ, et al. Among authors: leventer rj. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
High resolution chromosomal microarray in undiagnosed neurological disorders.
Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ. Howell KB, et al. Among authors: leventer rj. J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3. J Paediatr Child Health. 2013. PMID: 23731025 Clinical Trial.
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ. Wilson GR, et al. Among authors: leventer rj. Eur J Hum Genet. 2014 Jun;22(6):741-7. doi: 10.1038/ejhg.2013.229. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105366 Free PMC article.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Among authors: leventer rj. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ. Sim JC, et al. Among authors: leventer rj. Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43. Orphanet J Rare Dis. 2014. PMID: 24674232 Free PMC article.
200 results