Savarirayan R - Search Results

1

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Tan TY, et al. Among authors: savarirayan r. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. JAMA Pediatr. 2017. PMID: 28759686 Free PMC article.

2

New case of Cole-Carpenter syndrome.

Amor DJ, Savarirayan R, Schneider AS, Bankier A. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2000 Jun 5;92(4):273-7. doi: 10.1002/(sici)1096-8628(20000605)92:4<273::aid-ajmg10>3.0.co;2-t. Am J Med Genet. 2000. PMID: 10842295 Review.

3

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

Amor DJ, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2001 Oct 15;103(3):252-4. doi: 10.1002/ajmg.1540. Am J Med Genet. 2001. PMID: 11746001 No abstract available.

4

Familial digital arthropathy-brachydactyly.

Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2002 Mar 15;108(3):235-40. doi: 10.1002/ajmg.10269. Am J Med Genet. 2002. PMID: 11891693

5

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Savarirayan R, et al. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. Am J Med Genet A. 2003. PMID: 12567410

6

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. White SM, et al. Among authors: savarirayan r. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Clin Dysmorphol. 2003. PMID: 12868473

7

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Among authors: savarirayan r. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

8

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

Amor DJ, Voullaire L, Bentley K, Savarirayan R, Choo KH. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Mar 1;133A(2):151-7. doi: 10.1002/ajmg.a.30527. Am J Med Genet A. 2005. PMID: 15666312

9

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafé L, Francis DI, Savarirayan R. Tan TY, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Jun 15;135(3):324-7. doi: 10.1002/ajmg.a.30754. Am J Med Genet A. 2005. PMID: 15887278

10

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, Savarirayan R. Tan TY, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Dec 15;139(3):216-20. doi: 10.1002/ajmg.a.31013. Am J Med Genet A. 2005. PMID: 16278903

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