Tully HM - Search Results

1

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM Jr, Weiss A, Phillips JO, Doherty D. Tully HM, et al. Mov Disord. 2013 Dec;28(14):2019-23. doi: 10.1002/mds.25634. Epub 2013 Sep 18. Mov Disord. 2013. PMID: 24105968 Free PMC article.

2

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Tully HM, et al. Am J Med Genet A. 2012 Oct;158A(10):2393-406. doi: 10.1002/ajmg.a.35561. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965664 Free PMC article.

3

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Aldinger KA, et al. Among authors: tully hm. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580482 Free PMC article. Review.

4

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Ishak GE, et al. Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26. Brain. 2012. PMID: 22451504 Free PMC article.

5

Infantile hydrocephalus: a review of epidemiology, classification and causes.

Tully HM, Dobyns WB. Tully HM, et al. Eur J Med Genet. 2014 Aug;57(8):359-68. doi: 10.1016/j.ejmg.2014.06.002. Epub 2014 Jun 13. Eur J Med Genet. 2014. PMID: 24932902 Free PMC article. Review.

6

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Tully HM, et al. J Child Neurol. 2016 Mar;31(3):309-20. doi: 10.1177/0883073815592222. Epub 2015 Jul 16. J Child Neurol. 2016. PMID: 26184484 Free PMC article.

7

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.

Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB. Tully HM, et al. Neurosurg Focus. 2016 Nov;41(5):E5. doi: 10.3171/2016.8.FOCUS16241. Neurosurg Focus. 2016. PMID: 27798978 Free PMC article.

8

Mortality in Joubert syndrome.

Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Dempsey JC, et al. Among authors: tully hm. Am J Med Genet A. 2017 May;173(5):1237-1242. doi: 10.1002/ajmg.a.38158. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371402

9

Mortality in pediatric hydrocephalus.

Tully HM, Doherty D, Wainwright M. Tully HM, et al. Dev Med Child Neurol. 2022 Jan;64(1):112-117. doi: 10.1111/dmcn.14975. Epub 2021 Jul 15. Dev Med Child Neurol. 2022. PMID: 34268734 Free PMC article.

10

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Phelps IG, et al. Among authors: tully hm. Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771248 Free PMC article.

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