Schoch K - Search Results

1

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Among authors: schoch k. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 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

Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Veerapandiyan A, Shashi V, Jiang YH, Gallentine WB, Schoch K, Smith EC. Veerapandiyan A, et al. Among authors: schoch k. Muscle Nerve. 2010 Dec;42(6):975-9. doi: 10.1002/mus.21823. Muscle Nerve. 2010. PMID: 21104870 Free PMC article.

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: 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.

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: 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

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

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.

10

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

Faux D, Schoch K, Eubanks S, Hooper SR, Shashi V. Faux D, et al. Among authors: schoch k. J Genet Couns. 2012 Dec;21(6):835-44. doi: 10.1007/s10897-012-9535-5. Epub 2012 Aug 31. J Genet Couns. 2012. PMID: 22936417 Free PMC article.

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