Kozel BA - Search Results

1

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: kozel ba. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.

2

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: kozel ba. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. doi: 10.1161/JAHA.123.031377. Epub 2024 Jan 31. J Am Heart Assoc. 2024. PMID: 38293922 Free article.

3

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ. Ware SM, et al. Among authors: kozel ba. J Med Genet. 2009 May;46(5):308-14. doi: 10.1136/jmg.2008.063149. Epub 2009 Feb 2. J Med Genet. 2009. PMID: 19188198

4

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Eur J Hum Genet. 2012 Feb;20(2):176-9. doi: 10.1038/ejhg.2011.171. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934713 Free PMC article.

5

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. Baldridge D, et al. Among authors: kozel ba. Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2. Genet Med. 2017. PMID: 28252636 Free PMC article.

6

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.

Lugo M, Wong ZC, Billington CJ Jr, Parrish PCR, Muldoon G, Liu D, Pober BR, Kozel BA. Lugo M, et al. Among authors: kozel ba. Am J Med Genet A. 2020 May;182(5):1008-1020. doi: 10.1002/ajmg.a.61522. Epub 2020 Feb 20. Am J Med Genet A. 2020. PMID: 32077592 Free PMC article.

7

Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic.

Groves AP, Gettinger K, Druley TE, Kozel BA, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ. Groves AP, et al. Among authors: kozel ba. J Pediatr Hematol Oncol. 2019 Mar;41(2):133-136. doi: 10.1097/MPH.0000000000001251. J Pediatr Hematol Oncol. 2019. PMID: 30028825 Free PMC article.

8

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Thompson E, Abdalla E, Superti-Furga A, McAlister W, Kratz L, Unger S, Royer-Bertrand B, Campos-Xavier B, Mittaz-Crettol L, Amin AK, DeSanto C, Wilson DB, Douglas G, Kozel B, Shinawi M. Thompson E, et al. Bone. 2019 Mar;120:354-363. doi: 10.1016/j.bone.2018.11.006. Epub 2018 Nov 15. Bone. 2019. PMID: 30448303

9

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Cheng YW, et al. Among authors: kozel ba. Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24689074 Free PMC article.

10

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA. Kopp ND, et al. Among authors: kozel ba. Mol Genet Genomic Med. 2018 Sep;6(5):749-765. doi: 10.1002/mgg3.429. Epub 2018 Jul 15. Mol Genet Genomic Med. 2018. PMID: 30008175 Free PMC article. Clinical Trial.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

71 results

Search Page