Mehta L - Search Results

1

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L. Weisfeld-Adams JD, et al. Among authors: mehta l. Eur J Med Genet. 2012 Dec;55(12):732-6. doi: 10.1016/j.ejmg.2012.08.011. Epub 2012 Oct 9. Eur J Med Genet. 2012. PMID: 23059467

2

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Chui JV, Weisfeld-Adams JD, Tepperberg J, Mehta L. Chui JV, et al. Among authors: mehta l. Am J Med Genet A. 2011 Oct;155A(10):2508-11. doi: 10.1002/ajmg.a.34180. Am J Med Genet A. 2011. PMID: 21998864

3

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.

Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L. Brandt T, et al. Among authors: mehta l. Eur J Med Genet. 2013 Nov;56(11):619-23. doi: 10.1016/j.ejmg.2013.09.006. Epub 2013 Sep 20. Eur J Med Genet. 2013. PMID: 24056159 Free PMC article.

4

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Brandt T, et al. Among authors: mehta l. Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4. Am J Med Genet A. 2012. PMID: 22488896

5

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C. Weisfeld-Adams JD, et al. Among authors: mehta l. Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46. Orphanet J Rare Dis. 2013. PMID: 23521865 Free PMC article.

6

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

Reiner J, Karger L, Cohen N, Mehta L, Edelmann L, Scott SA. Reiner J, et al. Among authors: mehta l. J Mol Diagn. 2017 May;19(3):397-403. doi: 10.1016/j.jmoldx.2016.11.006. Epub 2017 Mar 18. J Mol Diagn. 2017. PMID: 28315673 Free PMC article.

7

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA. Fedick AM, et al. Among authors: mehta l. Clin Genet. 2015 Aug;88(2):177-81. doi: 10.1111/cge.12459. Epub 2014 Sep 5. Clin Genet. 2015. PMID: 25047097

8

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.

Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA. Shi L, et al. Among authors: mehta l. Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19. Mol Genet Genomic Med. 2019. PMID: 31218851 Free PMC article.

9

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. Webb BD, et al. Among authors: mehta l. Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2. Clin Genet. 2014. PMID: 23927549

10

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R. Shi L, et al. Among authors: mehta l. Clin Genet. 2017 Apr;91(4):599-604. doi: 10.1111/cge.12834. Epub 2016 Aug 22. Clin Genet. 2017. PMID: 27415407 Free PMC article.

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