Schoch K - Search Results

1

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: schoch k. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

2

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. Among authors: schoch k. 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.

3

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. Among authors: schoch k. 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.

4

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: schoch k. 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

5

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: schoch k. 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.

6

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: schoch k. 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

7

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. 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.

8

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: schoch k. 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.

9

Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study.

Shashi V, Veerapandiyan A, Keshavan MS, Zapadka M, Schoch K, Kwapil TR, Hooper SR, Stanley JA. Shashi V, et al. Among authors: schoch k. Biol Psychiatry. 2012 Oct 15;72(8):684-91. doi: 10.1016/j.biopsych.2012.04.023. Epub 2012 May 25. Biol Psychiatry. 2012. PMID: 22633947 Free PMC article.

10

Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.

Shashi V, Francis A, Hooper SR, Kranz PG, Zapadka M, Schoch K, Ip E, Tandon N, Howard TD, Keshavan MS. Shashi V, et al. Among authors: schoch k. Eur J Hum Genet. 2012 Oct;20(10):1051-7. doi: 10.1038/ejhg.2012.138. Epub 2012 Jun 27. Eur J Hum Genet. 2012. PMID: 22763378 Free PMC article.

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