Kirmani S - Search Results

1

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Among authors: kirmani s. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.

2

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Lionel AC, et al. Among authors: kirmani s. Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393157 Clinical Trial.

3

Response to Cobben et al. "Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice".

Hodge JC, Kirmani S. Hodge JC, et al. Among authors: kirmani s. Am J Med Genet A. 2013 Jun;161A(6):1520-1. doi: 10.1002/ajmg.a.35865. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613434 No abstract available.

4

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard.

Hodge JC, Hulshizer RL, Seger P, St Antoine A, Bair J, Kirmani S. Hodge JC, et al. Among authors: kirmani s. Am J Med Genet A. 2012 Mar;158A(3):669-73. doi: 10.1002/ajmg.a.35209. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315202

5

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S. Dhamija R, et al. Among authors: kirmani s. Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27. Eur J Med Genet. 2014. PMID: 24583203

6

Towards individualized medicine: insights gained from genomic studies.

Kirmani S, Babovic-Vuksanovic D. Kirmani S, et al. Bosn J Basic Med Sci. 2009 Oct;9 Suppl 1(Suppl 1):S11-S16. doi: 10.17305/bjbms.2009.2748. Bosn J Basic Med Sci. 2009. PMID: 19912112 Free PMC article.

7

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

Volk A, Conboy E, Wical B, Patterson M, Kirmani S. Volk A, et al. Among authors: kirmani s. Mol Syndromol. 2015 Feb;6(1):23-31. doi: 10.1159/000371598. Epub 2015 Feb 3. Mol Syndromol. 2015. PMID: 25852444 Free PMC article. Review.

8

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Dhamija R, Wirrell E, Falcao G, Kirmani S, Wong-Kisiel LC. Dhamija R, et al. Among authors: kirmani s. Pediatr Neurol. 2013 Dec;49(6):486-8. doi: 10.1016/j.pediatrneurol.2013.07.004. Epub 2013 Aug 26. Pediatr Neurol. 2013. PMID: 23988467

9

De novo 11q deletion including SHANK2 in a patient with global developmental delay.

Marcou CA, Studinski Jones AL, Murphree MI, Kirmani S, Hoppman NL. Marcou CA, et al. Among authors: kirmani s. Am J Med Genet A. 2017 Mar;173(3):801-805. doi: 10.1002/ajmg.a.38075. Am J Med Genet A. 2017. PMID: 28211979 No abstract available.

10

Spontaneous coronary artery dissection and its association with heritable connective tissue disorders.

Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, Olson TM, Hayes SN. Henkin S, et al. Among authors: kirmani s. Heart. 2016 Jun 1;102(11):876-81. doi: 10.1136/heartjnl-2015-308645. Epub 2016 Feb 10. Heart. 2016. PMID: 26864667

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