1. Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. (13th July 2019) Authors: Vervoort, Lisanne; Demaerel, Wolfram; Rengifo, Laura Y; Odrzywolski, Adrian; Vergaelen, Elfi; Hestand, Matthew S; Breckpot, Jeroen; Devriendt, Koen; Swillen, Ann; McDonald-McGinn, Donna M; Fiksinski, Ania M; Zinkstok, Janneke R; Morrow, Bernice E; Heung, Tracy; Vorstman, Jacob A S; Bassett, Anne ... Journal: Human molecular genetics Issue: Volume 28:Number 22(2019) Page Start: 3724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Issue 2 (10th December 2021) Authors: Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I.; Tjong, Fleur V.Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A.J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q.C.M.; Gewillig, Marc; Preuss, C... Journal: Circulation research Issue: Volume 130:Issue 2(2022) Page Start: 166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Issue 2 (21st January 2022) Authors: Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I.; Tjong, Fleur V.Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A.J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q.C.M.; Gewillig, Marc; Preuss, C... Journal: Circulation research Issue: Volume 130:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. Issue 1 (7th September 2021) Authors: Verbesselt, Jente; Zink, Inge; Breckpot, Jeroen; Swillen, Ann Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. C Identification of the major genetic contributors to tetralogy of fallot. (May 2019) Authors: Page, Donna J; Miossec, Matthieu J; Williams, Simon G; Monaghan, Richard M; Fotiou, Elisavet; Cordell, Heather J; Sutcliffe, Louise; Topf, Ana; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert; Dunwoodie, Sally L; Winlaw, David S; Bhattacharya, Shoumo; Breckpot, Jeroen; Devriendt, Koenraad;... Journal: Heart Issue: Volume 105(2019)Supplement 6 Page Start: A182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. (18th January 2018) Authors: Guo, Tingwei; Diacou, Alexander; Nomaru, Hiroko; McDonald-McGinn, Donna M; Hestand, Matthew; Demaerel, Wolfram; Zhang, Liangtian; Zhao, Yingjie; Ujueta, Francisco; Shan, Jidong; Montagna, Cristina; Zheng, Deyou; Crowley, Terrence B; Kushan-Wells, Leila; Bearden, Carrie E; Kates, Wendy R; Gothelf,... Journal: Human molecular genetics Issue: Volume 27:Number 7(2018:Apr. 01) Page Start: 1150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009) Authors: Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P... Journal: Journal of medical genetics Issue: Volume 47:Issue 3(2010) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Issue 4 (31st May 2022) Authors: Wilde, Arthur A. M.; Semsarian, Christopher; Márquez, Manlio F.; Sepehri Shamloo, Alireza; Ackerman, Michael J.; Ashley, Euan A.; Sternick Eduardo, Back; Barajas‐Martinez, Héctor; Behr, Elijah R.; Bezzina, Connie R.; Breckpot, Jeroen; Charron, Philippe; Chockalingam, Priya; Crotti, Lia; Gollob, M... Journal: Journal of arrhythmia Issue: Volume 38:Issue 4(2022) Page Start: 491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases . Issue 8 (4th April 2022) Authors: Wilde, Arthur A M; Semsarian, Christopher; Márquez, Manlio F; Shamloo, Alireza Sepehri; Ackerman, Michael J; Ashley, Euan A; Sternick, Eduardo Back; Barajas-Martinez, Héctor; Behr, Elijah R; Bezzina, Connie R; Breckpot, Jeroen; Charron, Philippe; Chockalingam, Priya; Crotti, Lia; Gollob, Michael ... Journal: Europace Issue: Volume 24:Issue 8(2022) Page Start: 1307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation. (May 2018) Authors: Witters, Peter; Breckpot, Jeroen; Foulquier, François; Preston, Graem; Jaeken, Jaak; Morava, Eva Journal: European journal of human genetics Issue: Volume 26:Number 5(2018) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗