Shannon P - Search Results

1

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Cappello S, et al. Among authors: shannon p. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056717

2

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ. Chitayat D, et al. Among authors: shannon p. Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2. Am J Med Genet A. 2018. PMID: 30070761 No abstract available.

3

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

Alkhunaizi E, Unger S, Shannon P, Nishimura G, Blaser S, Chitayat D. Alkhunaizi E, et al. Among authors: shannon p. Am J Med Genet A. 2020 Jul;182(7):1807-1811. doi: 10.1002/ajmg.a.61621. Epub 2020 Jun 7. Am J Med Genet A. 2020. PMID: 32506814

4

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Deshwar AR, Martin N, Shannon P, Chitayat D. Deshwar AR, et al. Among authors: shannon p. Clin Genet. 2020 Sep;98(3):299-302. doi: 10.1111/cge.13804. Epub 2020 Aug 3. Clin Genet. 2020. PMID: 32621286

5

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Chitayat D, et al. Among authors: shannon p. Am J Med Genet A. 2007 Dec 15;143A(24):3280-5. doi: 10.1002/ajmg.a.32022. Am J Med Genet A. 2007. PMID: 18000911

6

Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome).

Koifman A, Shannon P, Kingdom J, Chitayat D. Koifman A, et al. Among authors: shannon p. Clin Dysmorphol. 2009 Jul;18(3):151-153. doi: 10.1097/MCD.0b013e328328d4b9. Clin Dysmorphol. 2009. PMID: 19318925 No abstract available.

7

Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.

Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Moalem S, et al. Among authors: shannon p. Am J Med Genet A. 2013 Jul;161A(7):1792-6. doi: 10.1002/ajmg.a.36036. Epub 2013 May 24. Am J Med Genet A. 2013. PMID: 23713026

8

Fetal syringomyelia.

Guo A, Chitayat D, Blaser S, Keating S, Shannon P. Guo A, et al. Among authors: shannon p. Acta Neuropathol Commun. 2014 Aug 6;2:91. doi: 10.1186/s40478-014-0091-0. Acta Neuropathol Commun. 2014. PMID: 25092126 Free PMC article.

9

The pathology of incipient polymicrogyria.

Diamandis P, Chitayat D, Toi A, Blaser S, Shannon P. Diamandis P, et al. Among authors: shannon p. Brain Dev. 2017 Jan;39(1):23-39. doi: 10.1016/j.braindev.2016.06.005. Epub 2016 Jul 9. Brain Dev. 2017. PMID: 27406708

10

Spatiotemporal Proteomic Profiling of Human Cerebral Development.

Djuric U, Rodrigues DC, Batruch I, Ellis J, Shannon P, Diamandis P. Djuric U, et al. Among authors: shannon p. Mol Cell Proteomics. 2017 Sep;16(9):1548-1562. doi: 10.1074/mcp.M116.066274. Epub 2017 Jul 7. Mol Cell Proteomics. 2017. PMID: 28687556 Free PMC article.

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