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Last Name
Institution

Lakshmi Mehta

TitleASSOCIATE PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
Address1428 Madison Avenue
1st Floor,AB1-12
New York NY 10029
Phone212-241-6947
    Other Positions
    TitleASSOCIATE PROFESSOR
    InstitutionMount Sinai
    DepartmentPediatrics


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. Eur J Med Genet. 2013 Nov; 56(11):619-23.
      View in: PubMed
    2. Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013 Nov; 110(3):345-51.
      View in: PubMed
    3. Weisfeld-Adams JD, Mehta L, Rucker JC, Dembitzer FR, Szporn A, Lublin FD, Introne WJ, Bhambhani V, Chicka MC, Cho C. Atypical Ch├ędiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis. 2013; 8:46.
      View in: PubMed
    4. Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients. Am J Med Genet A. 2013 Mar; 161A(3):487-500.
      View in: PubMed
    5. Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur J Med Genet. 2012 Dec; 55(12):732-6.
      View in: PubMed
    6. Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet A. 2012 May; 158A(5):1170-7.
      View in: PubMed
    7. Taub PJ, Wolfeld M, Cohen-Pfeffer J, Mehta L. Mandibular distraction in the setting of chromosome 4q deletion. J Plast Reconstr Aesthet Surg. 2012 Apr; 65(4):e95-8.
      View in: PubMed
    8. Chui JV, Weisfeld-Adams JD, Tepperberg J, Mehta L. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH. Am J Med Genet A. 2011 Oct; 155A(10):2508-11.
      View in: PubMed
    9. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54.
      View in: PubMed
    10. Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):130-3.
      View in: PubMed
    11. Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, Kingsbury DJ, Anadiotis G, McGillivray BC, Hellemans J, de Leeuw N, de Vries BB, Speleman F, Menten B, Mortier G. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur J Med Genet. 2009 Mar-Jun; 52(2-3):101-7.
      View in: PubMed
    12. Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS. Ovotesticular disorder of sexual development (true hermaphroditism). Urology. 2009 Feb; 73(2):293-6.
      View in: PubMed
    13. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec 15; 123A(3):236-42.
      View in: PubMed
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    Mount Sinai Profiles is managed by Conduits - The Institutes for Translational Sciences at Icahn School of Medicine, supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health through Grant Number UL1TR000067