Jeroen Breckpot

ScholarGPS® ID: 76195854656398

Affiliation

KU Leuven, Leuven, Belgium

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

1,464

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: a multi‐site study (journal article) Verbesselt, J. \| Walsh, L. K. \| Mitchel, M. W. \| Taylor, C. M. \| Finucane, B. M. \| Breckpot, J. \| Zink, I. \| Swillen, A. Journal of Intellectual Disability Research (2024). 10.1111/jir.13141 Cite \| Source
Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case report (journal article) Dillemans, Luna \| Bekhuis, Youri \| Betrains, Albrecht \| Yu, Karen \| van Hemelen, Maarten \| Pörtner, Noëmie \| De Somer, Lien \| Matthys, Patrick \| Breckpot, Jeroen \| Tousseyn, Thomas \| ... \| Vanderschueren, Steven Clinical Immunology, volume 257 (2023). 10.1016/j.clim.2023.109815 Cited by (2) \| Cite \| Source
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI (journal article) Jacobs, Johanna \| Van Aelst, Lucas \| Breckpot, Jeroen \| Corveleyn, Anniek \| Kuiperi, Cuno \| Dupont, Matthias \| Heggermont, Ward \| De Vadder, Katrien \| Willems, Rik \| Van Cleemput, Johan \| ... \| Robyns, Tomas European Journal of Human Genetics, volume 31, issue 11, pages 1323-1332 (2023). 10.1038/s41431-023-01357-1 Cited by (4) \| Cite \| Source
Cell-free DNA methylome analysis for early preeclampsia prediction (journal article) De Borre, Marie \| Che, Huiwen \| Yu, Qian \| Lannoo, Lore \| De Ridder, Kobe \| Vancoillie, Leen \| Dreesen, Pauline \| Van Den Ackerveken, Mika \| Aerden, Mio \| Galle, Eva \| ... \| Thienpont, Bernard Nature Medicine, volume 29, issue 9, pages 2206-2215 (2023). 10.1038/s41591-023-02510-5 Cited by (9) \| Cite \| Source
Triplications of chromosome 1p36.3, including the genes GABRD and SKI , are associated with a developmental disorder and a facial gestalt (journal article) Pelgrims, Elise \| Lynch, Sally Ann \| Hannes, Laurens \| Hoffer, Mariëtte J. V. \| Melotte, Cindy \| Van Haeringen, Arie \| Swillen, Ann \| Breckpot, Jeroen American Journal of Medical Genetics Part A, volume 191, issue 7, pages 1889-1899 (2023). 10.1002/ajmg.a.63222 Cite \| Source
Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation study (journal article) Robyns, Tomas \| Nuyens, Dieter \| Vandenberk, Bert \| Haemers, Peter \| Breckpot, Jeroen \| Garweg, Christophe \| Ector, Joris \| Willems, Rik Frontiers in Cardiovascular Medicine, volume 10 (2023). 10.3389/fcvm.2023.1097468 Cite \| Source
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants (journal article) Verbesselt, Jente \| Solot, Cynthia B. \| Van Den Heuvel, Ellen \| Crowley, T. Blaine \| Giunta, Victoria \| Breckpot, Jeroen \| McDonald-McGinn, Donna M. \| Zink, Inge \| Swillen, Ann Genes, volume 14, issue 3, pages 679- (2023). 10.3390/genes14030679 Cited by (3) \| Cite \| Source
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions (journal article) Blagowidow, Natalie \| Nowakowska, Beata \| Schindewolf, Erica \| Grati, Francesca Romana \| Putotto, Carolina \| Breckpot, Jeroen \| Swillen, Ann \| Crowley, Terrence Blaine \| Loo, Joanne C. Y. \| Lairson, Lauren A. \| ... \| McDonald-McGinn, Donna M. Genes, volume 14, issue 1, pages 160- (2023). 10.3390/genes14010160 Cited by (13) \| Cite \| Source
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge (journal article) Lannoo, Lore \| van Straaten, Khaila \| Breckpot, Jeroen \| Brison, Nathalie \| De Catte, Luc \| Dimitriadou, Eftychia \| Legius, Eric \| Peeters, Hilde \| Parijs, Ilse \| Tsuiko, Olga \| ... \| Devriendt, Koenraad European Journal of Human Genetics, volume 30, issue 12, pages 1323-1330 (2022). 10.1038/s41431-022-01147-1 Cited by (14) \| Cite \| Source
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings (journal article) Verbesselt, Jente \| Van Den Heuvel, Ellen \| Breckpot, Jeroen \| Zink, Inge \| Swillen, Ann Genes, volume 13, issue 10, pages 1801- (2022). 10.3390/genes13101801 Cited by (3) \| Cite \| Source
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (journal article) Micale, Lucia \| Morlino, Silvia \| Carbone, Annalucia \| Carissimo, Annamaria \| Nardella, Grazia \| Fusco, Carmela \| Palumbo, Orazio \| Schirizzi, Annalisa \| Russo, Federica \| Mazzoccoli, Gianluigi \| ... \| Castori, Marco Genetics in Medicine, volume 24, issue 2, pages 439-453 (2022). 10.1016/j.gim.2021.10.009 Cited by (1) \| Cite \| Source
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study (journal article) Verbesselt, Jente \| Zink, Inge \| Breckpot, Jeroen \| Swillen, Ann American Journal of Medical Genetics Part A, volume 188, issue 1, pages 46-57 (2022). 10.1002/ajmg.a.62487 Cited by (8) \| Cite \| Source
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? (journal article) Lopergolo, Diego \| Privitera, Flavia \| Castello, Giuseppe \| Lo Rizzo, Caterina \| Mencarelli, Maria Antonietta \| Pinto, Anna Maria \| Ariani, Francesca \| Currò, Aurora \| Lamacchia, Vittoria \| Canitano, Roberto \| ... \| Mari, Francesca Clinical Genetics, volume 99, issue 3, pages 462-474 (2021). 10.1111/cge.13908 Cited by (12) \| Cite \| Source
141 Effect of prenatal versus postnatal diagnosis on outcomes in patients with 22q11.2 deletion syndrome (journal article) Freud, Lindsay R. \| Galloway, Stephanie \| Crowley, T. Blaine \| Philip-Sarles, Nicole \| Swillen, Ann \| Breckpot, Jeroen \| Borrell, Antoni \| Vora, Neeta L. \| Cuneo, Bettina \| Nowakowska, Beata \| ... \| McDonald-McGinn, Donna American Journal of Obstetrics and Gynecology, volume 224, issue 2, pages S96-S97 (2021). 10.1016/j.ajog.2020.12.163 Cite \| Source
22q11.2 Deletion Syndrome (book chapter) In Handbook of Pragmatic Language Disorders Van Den Heuvel, Ellen \| Breckpot, Jeroen \| Vergaelen, Elfi \| Swillen, Ann Springer International Publishing (2021) 10.1007/978-3-030-74985-9_7 Cite \| Source
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20 (journal article) Robyns, Tomas \| Willems, Rik \| Van Cleemput, Johan \| Jhangiani, Shalini \| Muzny, Donna \| Gibbs, Richard \| Lupski, James R. \| Breckpot, Jeroen \| Devriendt, Koenraad \| Corveleyn, Anniek Acta Cardiologica, volume 75, issue 8, pages 748-753 (2020). 10.1080/00015385.2019.1674490 Cited by (7) \| Cite \| Source
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease (journal article) Izarzugaza, Jose M. G. \| Ellesøe, Sabrina G. \| Doganli, Canan \| Ehlers, Natasja Spring \| Dalgaard, Marlene D. \| Audain, Enrique \| Dombrowsky, Gregor \| Banasik, Karina \| Sifrim, Alejandro \| Wilsdon, Anna \| ... \| Brunak, Søren Genome Medicine, volume 12, issue 1 (2020). 10.1186/s13073-020-00772-z Cited by (14) \| Cite \| Source
Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts (journal article) Jühlen, Ramona \| Martinelli, Valérie \| Vinci, Chiara \| Breckpot, Jeroen \| Fahrenkrog, Birthe Scientific Reports, volume 10, issue 1 (2020). 10.1038/s41598-020-76192-1 Cited by (5) \| Cite \| Source
A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery (journal article) Veldeman, Laurens \| Robbrecht, Saskia \| Breckpot, Jeroen \| Weynand, Birgit \| Decallonne, Brigitte Calcified Tissue International, volume 107, issue 1, pages 104-108 (2020). 10.1007/s00223-020-00693-4 Cited by (1) \| Cite \| Source
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association (journal article) Rinaldi, Berardo \| Race, Valerie \| Corveleyn, Anniek \| Van Hoof, Evelien \| Bauters, Marijke \| Van Den Bogaert, Kris \| Denayer, Ellen \| de Ravel, Thomy \| Legius, Eric \| Baldewijns, Marcella \| ... \| Devriendt, Koenraad European Journal of Medical Genetics, volume 63, issue 5, pages 103875- (2020). 10.1016/j.ejmg.2020.103875 Cited by (10) \| Cite \| Source