Carey JC - Search Results

1

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S. Nicholas TJ, et al. Among authors: carey jc. Mol Genet Genomic Med. 2022 Apr;10(4):e1888. doi: 10.1002/mgg3.1888. Epub 2022 Feb 4. Mol Genet Genomic Med. 2022. PMID: 35119225 Free PMC article.

2

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

Bonkowsky JL, Johnson J, Carey JC, Smith AG, Swoboda KJ. Bonkowsky JL, et al. Among authors: carey jc. Pediatrics. 2003 Sep;112(3 Pt 1):e237-41. doi: 10.1542/peds.112.3.e237. Pediatrics. 2003. PMID: 12949319

3

Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening.

Dent KM, Kenneson A, Palumbos JC, Maxwell S, Eichwald J, White K, Mao R, Bale JF Jr, Carey JC. Dent KM, et al. Among authors: carey jc. Am J Med Genet C Semin Med Genet. 2004 Feb 15;125C(1):28-34. doi: 10.1002/ajmg.c.30002. Am J Med Genet C Semin Med Genet. 2004. PMID: 14755431

4

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. Stevenson DA, et al. Among authors: carey jc. J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027. J Pediatr. 2004. PMID: 15580214

5

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Toydemir RM, et al. Among authors: carey jc. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 Apr 16. Nat Genet. 2006. PMID: 16642020

6

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. Toydemir RM, et al. Among authors: carey jc. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 Sep 26. Am J Hum Genet. 2006. PMID: 17033969 Free PMC article.

7

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF. Furtado LV, et al. Among authors: carey jc. Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674. Am J Med Genet A. 2010. PMID: 20949533

8

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: carey jc. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.

9

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, D'Astous J, Viskochil D, Stevenson DA, Mao R. Margraf RL, et al. J Mol Diagn. 2017 May;19(3):468-474. doi: 10.1016/j.jmoldx.2017.01.008. J Mol Diagn. 2017. PMID: 28433079 Free PMC article.

10

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC. Carlston CM, et al. Among authors: carey jc. Am J Med Genet A. 2017 Oct;173(10):2622-2627. doi: 10.1002/ajmg.a.38360. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742285

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