Barnett CP - Search Results

1

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Among authors: barnett cp. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.

2

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

Barnett CP, Dugar M, Haan EA. Barnett CP, et al. Am J Med Genet A. 2011 Jun;155A(6):1492-5. doi: 10.1002/ajmg.a.34003. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567927 No abstract available.

3

Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.

Rudaks LI, Moore L, Shand KL, Wilkinson C, Barnett CP. Rudaks LI, et al. Among authors: barnett cp. Pediatr Neurol. 2011 Sep;45(3):185-8. doi: 10.1016/j.pediatrneurol.2011.05.009. Pediatr Neurol. 2011. PMID: 21824568

4

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Rudaks LI, Nicholl JK, Bratkovic D, Barnett CP. Rudaks LI, et al. Among authors: barnett cp. Am J Med Genet A. 2011 Dec;155A(12):3139-43. doi: 10.1002/ajmg.a.34310. Epub 2011 Nov 7. Am J Med Genet A. 2011. PMID: 22065603 Review. No abstract available.

5

Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP. Rudaks LI, et al. Among authors: barnett cp. Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29. Pediatr Cardiol. 2012. PMID: 22374380

6

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.

Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin SM, Vinette KM, Uppill M, Nicholl J. Barnett CP, et al. Am J Med Genet A. 2012 Dec;158A(12):3168-73. doi: 10.1002/ajmg.a.35456. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169673

7

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456

8

6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.

LeBlanc SK, Yu S, Barnett CP. LeBlanc SK, et al. Among authors: barnett cp. Am J Med Genet A. 2013 Apr;161A(4):901-4. doi: 10.1002/ajmg.a.35804. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495225 No abstract available.

9

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium; Friend K, Bain SM, Yu S. Nicholl J, et al. Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043. Pathology. 2014. PMID: 24300712

10

Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

Gai D, Nicholl J, Waters W, Barnett CP, Yu S. Gai D, et al. Among authors: barnett cp. Am J Med Genet A. 2014 Mar;164A(3):834-6. doi: 10.1002/ajmg.a.36336. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357539 No abstract available.

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