Breckpot J - Search Results

1

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Geysens M, Huremagic B, Souche E, Breckpot J, Devriendt K, Peeters H, Van Buggenhout G, Van Esch H, Van Den Bogaert K, Vermeesch JR. Geysens M, et al. Among authors: breckpot j. Genome Med. 2025 Jan 10;17(1):1. doi: 10.1186/s13073-024-01419-z. Genome Med. 2025. PMID: 39789644 Free PMC article.

2

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Jia Y, Louw JJ, Breckpot J, Callewaert B, Barrea C, Sznajer Y, Gewillig M, Souche E, Dehaspe L, Vermeesch JR, Lambrechts D, Devriendt K, Corveleyn A. Jia Y, et al. Among authors: breckpot j. Am J Med Genet A. 2015 Aug;167A(8):1822-9. doi: 10.1002/ajmg.a.37108. Epub 2015 Apr 30. Am J Med Genet A. 2015. PMID: 25931334

3

Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome.

Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn D, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: breckpot j. Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124. Online ahead of print. Genome Res. 2024. PMID: 39537358

4

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K. Breckpot J, et al. Cytogenet Genome Res. 2011;135(3-4):251-9. doi: 10.1159/000331272. Epub 2011 Sep 13. Cytogenet Genome Res. 2011. PMID: 21921585 Review.

5

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

Breckpot J, Tranchevent LC, Thienpont B, Bauters M, Troost E, Gewillig M, Vermeesch JR, Moreau Y, Devriendt K, Van Esch H. Breckpot J, et al. Eur J Med Genet. 2012 Jan;55(1):12-6. doi: 10.1016/j.ejmg.2011.10.003. Epub 2011 Oct 20. Eur J Med Genet. 2012. PMID: 22067610

6

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.

Van Campenhout S, Devriendt K, Breckpot J, Frijns JP, Peeters H, Van Buggenhout G, Van Esch H, Maes B, Swillen A. Van Campenhout S, et al. Among authors: breckpot j. Genet Couns. 2012;23(2):135-48. Genet Couns. 2012. PMID: 22876571

7

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T, Kuiperi C, Breckpot J, Devriendt K, Souche E, Van Cleemput J, Willems R, Nuyens D, Matthijs G, Corveleyn A. Robyns T, et al. Among authors: breckpot j. Eur J Hum Genet. 2017 Dec;25(12):1313-1323. doi: 10.1038/s41431-017-0004-3. Epub 2017 Oct 10. Eur J Hum Genet. 2017. PMID: 29255176 Free PMC article.

8

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Lannoo L, van Straaten K, Breckpot J, Brison N, De Catte L, Dimitriadou E, Legius E, Peeters H, Parijs I, Tsuiko O, Vancoillie L, Vermeesch JR, Van Buggenhout G, Van Den Bogaert K, Van Calsteren K, Devriendt K. Lannoo L, et al. Among authors: breckpot j. Eur J Hum Genet. 2022 Dec;30(12):1323-1330. doi: 10.1038/s41431-022-01147-1. Epub 2022 Jul 27. Eur J Hum Genet. 2022. PMID: 35896702 Free PMC article. Review.

9

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, Rayyan M, Allegaert K, Vanhole C, Eyskens B, Vermeesch JR, Gewillig M, Devriendt K. Breckpot J, et al. J Pediatr. 2010 May;156(5):810-7, 817.e1-817.e4. doi: 10.1016/j.jpeds.2009.11.049. Epub 2010 Feb 6. J Pediatr. 2010. PMID: 20138633

10

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

Rinaldi B, Race V, Corveleyn A, Van Hoof E, Bauters M, Van Den Bogaert K, Denayer E, de Ravel T, Legius E, Baldewijns M, Aertsen M, Lewi L, De Catte L, Breckpot J, Devriendt K. Rinaldi B, et al. Among authors: breckpot j. Eur J Med Genet. 2020 May;63(5):103875. doi: 10.1016/j.ejmg.2020.103875. Epub 2020 Feb 10. Eur J Med Genet. 2020. PMID: 32058062

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

108 results

Search Page

Filters