Shashi V - Search Results

1

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: shashi v. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.

2

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC. Shashi V, et al. Am J Hum Genet. 2000 Feb;66(2):469-79. doi: 10.1086/302772. Am J Hum Genet. 2000. PMID: 10677307 Free PMC article.

3

COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.

Shashi V, Howard TD, Keshavan MS, Kaczorowski J, Berry MN, Schoch K, Spence EJ, Kwapil TR. Shashi V, et al. Psychiatry Res. 2010 Jul 30;178(2):433-6. doi: 10.1016/j.psychres.2010.04.048. Epub 2010 May 20. Psychiatry Res. 2010. PMID: 20488547 Free PMC article.

4

Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.

Shashi V, Keshavan M, Kaczorowski J, Schoch K, Lewandowski KE, McConkie-Rosell A, Hooper SR, Kwapil TR. Shashi V, et al. J Genet Couns. 2010 Oct;19(5):535-44. doi: 10.1007/s10897-010-9309-x. Epub 2010 Aug 3. J Genet Couns. 2010. PMID: 20680421 Free PMC article.

5

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Veerapandiyan A, Chinn IK, Schoch K, Maloney KA, Shashi V. Veerapandiyan A, et al. Among authors: shashi v. Eur J Med Genet. 2011 Jan-Feb;54(1):63-6. doi: 10.1016/j.ejmg.2010.09.004. Epub 2010 Sep 29. Eur J Med Genet. 2011. PMID: 20887823

6

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

Young AS, Shashi V, Schoch K, Kwapil T, Hooper SR. Young AS, et al. Among authors: shashi v. Asian J Psychiatr. 2011 Jun 1;4(2):119-124. doi: 10.1016/j.ajp.2011.03.002. Asian J Psychiatr. 2011. PMID: 21743818 Free PMC article.

7

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Veerapandiyan A, et al. Among authors: shashi v. Am J Med Genet A. 2011 Sep;155A(9):2186-95. doi: 10.1002/ajmg.a.34226. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834039

8

Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions.

Shashi V, Veerapandiyan A, Schoch K, Kwapil T, Keshavan M, Ip E, Hooper S. Shashi V, et al. J Intellect Disabil Res. 2012 Sep;56(9):865-78. doi: 10.1111/j.1365-2788.2011.01477.x. Epub 2011 Aug 31. J Intellect Disabil Res. 2012. PMID: 21883601

9

Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome.

Schoch K, Harrell W, Hooper SR, Ip EH, Saldana S, Kwapil TR, Shashi V. Schoch K, et al. Among authors: shashi v. J Learn Disabil. 2014 Mar-Apr;47(2):153-66. doi: 10.1177/0022219412443556. Epub 2012 May 9. J Learn Disabil. 2014. PMID: 22572413 Free PMC article.

10

Clinical application of exome sequencing in undiagnosed genetic conditions.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB. Need AC, et al. Among authors: shashi v. J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11. J Med Genet. 2012. PMID: 22581936 Free PMC article.

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