Mehta L - Search Results

1

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. Yonath H, et al. Among authors: mehta l. Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905. Prenat Diagn. 2012. PMID: 22367672

2

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.

3

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

4

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

5

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Wang J, Liao J, Zhang J, Cheng WY, Hakenberg J, Ma M, Webb BD, Ramasamudram-Chakravarthi R, Karger L, Mehta L, Kornreich R, Diaz GA, Li S, Edelmann L, Chen R. Wang J, et al. Among authors: mehta l. Genome Med. 2015 Jul 29;7(1):77. doi: 10.1186/s13073-015-0207-6. Genome Med. 2015. PMID: 26338694 Free PMC article.

6

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.

7

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

8

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.

9

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Schussler E, Linkner RV, Levitt J, Mehta L, Martignetti JA, Oishi K. Schussler E, et al. Among authors: mehta l. Adv Genomics Genet. 2018;8:17-21. doi: 10.2147/AGG.S159077. Epub 2018 Jun 27. Adv Genomics Genet. 2018. PMID: 30050362 Free PMC article.

10

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

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