Weksberg R - Search Results

1

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: weksberg r. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.

2

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. Terespolsky D, et al. Among authors: weksberg r. Am J Med Genet. 1995 Nov 20;59(3):329-33. doi: 10.1002/ajmg.1320590310. Am J Med Genet. 1995. PMID: 8599356

3

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA. Ruttledge MH, et al. Among authors: weksberg r. Am J Hum Genet. 1996 Aug;59(2):331-42. Am J Hum Genet. 1996. PMID: 8755919 Free PMC article.

4

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Biesecker LG, et al. Among authors: weksberg r. Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10360391 Review.

5

Phenotype of adults with the 22q11 deletion syndrome: A review.

Cohen E, Chow EW, Weksberg R, Bassett AS. Cohen E, et al. Among authors: weksberg r. Am J Med Genet. 1999 Oct 8;86(4):359-65. doi: 10.1002/(sici)1096-8628(19991008)86:4<359::aid-ajmg10>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10494092 Free PMC article. Review.

6

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. Li M, et al. Among authors: weksberg r. Am J Med Genet. 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11477610

7

Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.

Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Hopyan T, et al. Among authors: weksberg r. Child Neuropsychol. 2001 Mar;7(1):42-53. doi: 10.1076/chin.7.1.42.3147. Child Neuropsychol. 2001. PMID: 11815880

8

Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS).

Yoon G, Graham G, Weksberg R, Gaul HP, DeBaun MR, Coppes MJ. Yoon G, et al. Among authors: weksberg r. Med Pediatr Oncol. 2002 Mar;38(3):193-9. doi: 10.1002/mpo.1310. Med Pediatr Oncol. 2002. PMID: 11836721 No abstract available.

9

Detecting rearrangements in children using subtelomeric FISH and SKY.

Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. Clarkson B, et al. Among authors: weksberg r. Am J Med Genet. 2002 Feb 1;107(4):267-74. doi: 10.1002/ajmg.10240. Am J Med Genet. 2002. PMID: 11840482

10

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2002 May 15;11(11):1317-25. doi: 10.1093/hmg/11.11.1317. Hum Mol Genet. 2002. PMID: 12019213

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