Coveler K - Search Results

Year	Number of Results
2002	2
2003	3
2004	1
2005	1
2023	1
2024	2
2025	0

1

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.

2

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Bamshad MJ, Rehm HL. Chong JX, et al. Genet Med. 2024 Oct;26(10):101199. doi: 10.1016/j.gim.2024.101199. Epub 2024 Jun 26. Genet Med. 2024. PMID: 38944749

3

A case of segmental paternal isodisomy of chromosome 14.

Coveler KJ, Yang SP, Sutton R, Milstein JM, Wu YQ, Bois KD, Beischel LS, Johnson JP, Shaffer LG. Coveler KJ, et al. Hum Genet. 2002 Mar;110(3):251-6. doi: 10.1007/s00439-002-0688-4. Epub 2002 Feb 26. Hum Genet. 2002. PMID: 11935337 Review.

4

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.

Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: coveler kj. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.

5

Epigenetic detection of human chromosome 14 uniparental disomy.

Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL. Murphy SK, et al. Among authors: coveler kj. Hum Mutat. 2003 Jul;22(1):92-7. doi: 10.1002/humu.10237. Hum Mutat. 2003. PMID: 12815599

6

Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.

Rosa AL, Wu YQ, Kwabi-Addo B, Coveler KJ, Reid Sutton V, Shaffer LG. Rosa AL, et al. Among authors: coveler kj. Chromosome Res. 2005;13(8):809-18. doi: 10.1007/s10577-005-1015-4. Epub 2005 Dec 8. Chromosome Res. 2005. PMID: 16331412

7

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mohapatra B, et al. Among authors: coveler kj. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. doi: 10.1016/s1096-7192(03)00142-2. Mol Genet Metab. 2003. PMID: 14567970

8

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Sutton VR, et al. Among authors: coveler kj. Am J Med Genet. 2002 Sep 15;112(1):23-7. doi: 10.1002/ajmg.10703. Am J Med Genet. 2002. PMID: 12239715

9

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

Kenton AB, Sanchez X, Coveler KJ, Makar KA, Jimenez S, Ichida F, Murphy RT, Elliott PM, McKenna W, Bowles NE, Towbin JA, Bowles KR. Kenton AB, et al. Among authors: coveler kj. Mol Genet Metab. 2004 Jun;82(2):162-6. doi: 10.1016/j.ymgme.2004.02.009. Mol Genet Metab. 2004. PMID: 15172004

10

Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14.

Coveler KJ, Sutton VR, Knox-DuBois C, Shaffer LG. Coveler KJ, et al. J Med Genet. 2003 Mar;40(3):e26. doi: 10.1136/jmg.40.3.e26. J Med Genet. 2003. PMID: 12624155 Free PMC article. No abstract available.

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