Paciorkowski AR - Search Results

1

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. Cushion TD, et al. Among authors: paciorkowski ar. Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009. Am J Hum Genet. 2014. PMID: 24702957 Free PMC article.

2

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. Paciorkowski AR, et al. Eur J Hum Genet. 2014 May;22(5):587-93. doi: 10.1038/ejhg.2013.196. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045845 Free PMC article.

3

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. Hansen J, et al. Among authors: paciorkowski ar. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Am J Hum Genet. 2015. PMID: 25839329 Free PMC article.

4

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Paciorkowski AR, et al. Am J Med Genet A. 2013 Jul;161A(7):1523-30. doi: 10.1002/ajmg.a.35969. Epub 2013 May 23. Am J Med Genet A. 2013. PMID: 23704059 Free PMC article.

5

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. Mirzaa GM, et al. Among authors: paciorkowski ar. Am J Med Genet A. 2014 Jun;164A(6):1503-11. doi: 10.1002/ajmg.a.36517. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700709 Free PMC article.

6

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mirzaa GM, et al. Among authors: paciorkowski ar. Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20. Hum Genet. 2014. PMID: 24748105 Free PMC article.

7

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. Seltzer LE, et al. Among authors: paciorkowski ar. Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub 2014 May 16. Epilepsia. 2014. PMID: 24836831 Free PMC article.

8

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Paciorkowski AR, et al. Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5. Epilepsia. 2015. PMID: 25656163 Free PMC article.

9

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

Pröschel C, Hansen JN, Ali A, Tuttle E, Lacagnina M, Buscaglia G, Halterman MW, Paciorkowski AR. Pröschel C, et al. Among authors: paciorkowski ar. Eur J Hum Genet. 2017 Feb;25(2):216-221. doi: 10.1038/ejhg.2016.145. Epub 2016 Dec 14. Eur J Hum Genet. 2017. PMID: 27966542 Free PMC article.

10

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR. Park K, et al. Among authors: paciorkowski ar. Am J Med Genet A. 2017 Jul;173(7):1951-1954. doi: 10.1002/ajmg.a.38236. Epub 2017 May 2. Am J Med Genet A. 2017. PMID: 28464511 Free PMC article.

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