Madan-Khetarpal S - Search Results

1

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U. Hu J, et al. Am J Med Genet A. 2015 Aug;167A(8):1921-6. doi: 10.1002/ajmg.a.37110. Epub 2015 Apr 10. Am J Med Genet A. 2015. PMID: 25866352

2

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. Ballif BC, et al. Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704777

3

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.

Madan S, Madan-Khetarpal S, Park SC, Surti U, Bailey AL, McConnell J, Tadros SS. Madan S, et al. Am J Med Genet A. 2010 May;152A(5):1295-9. doi: 10.1002/ajmg.a.33367. Am J Med Genet A. 2010. PMID: 20425839

4

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U. Cajaiba MM, et al. Am J Med Genet A. 2011 Aug;155A(8):1996-2002. doi: 10.1002/ajmg.a.34106. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739591

5

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J. Liao J, et al. Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990074

6

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Lamb AN, et al. Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037. Hum Mutat. 2012. PMID: 22290657 Free PMC article.

7

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U. Hu J, et al. Genet Res Int. 2011;2011:185271. doi: 10.4061/2011/185271. Epub 2011 Jul 17. Genet Res Int. 2011. PMID: 22567345 Free PMC article.

8

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U. Hu J, et al. Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225375

9

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA. Peterson JF, et al. Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238. Am J Med Genet A. 2014. PMID: 24592505

10

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA. Beck M, et al. Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25810350

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