Tan CA - Search Results

1

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: tan ca. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.

2

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Minor A, et al. Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27. Gene. 2014. PMID: 24378232

3

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S. Tan CA, et al. Brain Dev. 2014 Apr;36(4):351-5. doi: 10.1016/j.braindev.2013.05.001. Epub 2013 May 28. Brain Dev. 2014. PMID: 23726037

4

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S. Tan CA, et al. Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13. Clin Genet. 2014. PMID: 23611254

5

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Cheng YW, et al. Among authors: tan ca. Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24689074 Free PMC article.

6

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E. Bhoj E, et al. Am J Med Genet A. 2013 Sep;161A(9):2327-33. doi: 10.1002/ajmg.a.36061. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913759

7

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S. Tan CA, et al. Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25693842

8

Iron deficiency in healthy, term infants aged five months, in a pediatric outpatient clinic: a prospective study.

Adnan NA, Breen E, Tan CA, Wang CC, Jalaludin MY, Lum LCS. Adnan NA, et al. Among authors: tan ca. BMC Pediatr. 2024 Jan 23;24(1):74. doi: 10.1186/s12887-023-04277-7. BMC Pediatr. 2024. PMID: 38263022 Free PMC article.

9

Purine and carbohydrate availability drive Enterococcus faecalis fitness during wound and urinary tract infections.

Tan CAZ, Chong KKL, Yeong DYX, Ng CHM, Ismail MH, Yap ZH, Khetrapal V, Tay VSY, Drautz-Moses DI, Ali Y, Chen SL, Kline KA. Tan CAZ, et al. mBio. 2024 Jan 16;15(1):e0238423. doi: 10.1128/mbio.02384-23. Epub 2023 Dec 11. mBio. 2024. PMID: 38078746 Free PMC article.

10

Predictors of SARS-CoV-2 Omicron breakthrough infection after receipt of AZD7442 (tixagevimab-cilgavimab) for pre-exposure prophylaxis among hematologic malignancy patients.

Laracy JC, Yan J, Steiger SN, Tan CA, Cohen N, Robilotti EV, Fender J, Cohen S, Korde N, Lee-Teh M, Noy A, Oved JH, Roeker LE, Shah G, Babady NE, Kamboj M, Seo SK. Laracy JC, et al. Among authors: tan ca. Haematologica. 2023 Nov 1;108(11):3058-3067. doi: 10.3324/haematol.2023.283015. Haematologica. 2023. PMID: 37345467 Free PMC article.

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