Barnett C - Search Results

1

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: barnett c. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341

2

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

3

8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?

Mordaunt D, Oftedal BE, McLauchlan A, Coates D, Waters W, Scott H, Barnett C. Mordaunt D, et al. Among authors: barnett c. Pediatr Neurol. 2015 Feb;52(2):230-4.e1. doi: 10.1016/j.pediatrneurol.2014.09.002. Epub 2014 Oct 13. Pediatr Neurol. 2015. PMID: 25693585

4

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, Bruno DL, Lipsett J, McPhee AJ, Schreiber AW, Feng J, Hahn CN, Scott HS. Barnett CP, et al. Hum Mutat. 2016 Sep;37(9):955-63. doi: 10.1002/humu.23032. Epub 2016 Jul 11. Hum Mutat. 2016. PMID: 27323706

5

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Crawford A, Moore L, Bennett G, Savarirayan R, Manton N, Khong Y, Barnett CP, Haan E. Crawford A, et al. Am J Med Genet A. 2016 Nov;170(11):2960-2964. doi: 10.1002/ajmg.a.37856. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481052

6

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Venugopal P, et al. Among authors: barnett c. Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971907 Free PMC article. No abstract available.

7

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS. Byrne AB, et al. J Med Genet. 2020 Jul;57(7):454-460. doi: 10.1136/jmedgenet-2019-106700. Epub 2020 Jan 27. J Med Genet. 2020. PMID: 31988067 Free PMC article.

8

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Arts P, Garland J, Byrne AB, Hardy TSE, Babic M, Feng J, Wang P, Ha T, King-Smith SL, Schreiber AW, Crawford A, Manton N, Moore L, Barnett CP, Scott HS. Arts P, et al. Am J Med Genet A. 2020 May;182(5):1273-1277. doi: 10.1002/ajmg.a.61541. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141698 Free PMC article.

9

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

LeBlanc S, Naveen D, Haan E, Barnett C, Rawlings L, Roscioli T, Poplawski N. LeBlanc S, et al. Among authors: barnett c. Am J Med Genet A. 2020 Jul;182(7):1780-1784. doi: 10.1002/ajmg.a.61601. Epub 2020 Apr 17. Am J Med Genet A. 2020. PMID: 32302040

10

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

De Angelis C, Byrne AB, Morrow R, Feng J, Ha T, Wang P, Schreiber AW, Babic M, Taranath A, Manton N, King-Smith SL, Schwarz Q, Arts P, Scott HS, Barnett C. De Angelis C, et al. Among authors: barnett c. BMC Med Genomics. 2021 Feb 27;14(1):64. doi: 10.1186/s12920-021-00911-4. BMC Med Genomics. 2021. PMID: 33639934 Free PMC article.

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