Ellison JW - Search Results

1

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH. Khalil R, et al. Among authors: ellison jw. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):736-745. doi: 10.1002/ajmg.b.32688. Epub 2018 Nov 13. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30421579 Free PMC article.

2

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, Babovic-Vuksanovic D. Cuturilo G, et al. Among authors: ellison jw. Clin Genet. 2016 Jan;89(1):109-14. doi: 10.1111/cge.12572. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25691298 Review.

3

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. Dabell MP, et al. Among authors: ellison jw. Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495017

4

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Ensenauer RE, Shaughnessy WJ, Jalal SM, Dawson DB, Courteau LK, Ellison JW. Ensenauer RE, et al. Among authors: ellison jw. Am J Med Genet A. 2005 Apr 15;134A(2):202-6. doi: 10.1002/ajmg.a.30586. Am J Med Genet A. 2005. PMID: 15690403 Review.

5

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems.

Zou YS, Van Dyke DL, Ellison JW. Zou YS, et al. Among authors: ellison jw. Am J Med Genet A. 2007 Apr 1;143A(7):746-51. doi: 10.1002/ajmg.a.31645. Am J Med Genet A. 2007. PMID: 17345620

6

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

Kirmani S, Tebben PJ, Lteif AN, Gordon D, Clarke BL, Hefferan TE, Yaszemski MJ, McGrann PS, Lindor NM, Ellison JW. Kirmani S, et al. Among authors: ellison jw. Am J Med Genet A. 2010 Apr;152A(4):1016-9. doi: 10.1002/ajmg.a.33356. Am J Med Genet A. 2010. PMID: 20358619

7

Gene symbol: CHD7. Disease: CHARGE syndrome.

Ellison J. Ellison J. Hum Genet. 2008 Oct;124(3):323. Hum Genet. 2008. PMID: 18846688 No abstract available.

8

Novel human pathological mutations. Gene symbol: PTEN. Disease: PTEN Hamartoma Tumour Syndrome.

Ellison J, Driscoll D. Ellison J, et al. Hum Genet. 2010 Jan;127(1):124. Hum Genet. 2010. PMID: 20108439 No abstract available.

9

Novel human pathological mutations. Gene symbol: VHL. Disease: Von Hippel-Lindau syndrome.

Ellison J. Ellison J. Hum Genet. 2010 Apr;127(4):477. Hum Genet. 2010. PMID: 21488287 No abstract available.

10

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J. Alfardan J, et al. Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23. Mol Genet Metab. 2010. PMID: 20547083 Free PMC article.

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