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Page 1
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium; Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: breckpot j. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863274 Free PMC article. No abstract available.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium. Guo T, et al. Among authors: breckpot j. Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16. Hum Mutat. 2011. PMID: 21796729 Free PMC article.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD. Cordell HJ, et al. Among authors: breckpot j. Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708191 Free PMC article.
Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal.
Abdi K, Abramsky R, Andescavage N, Bambi J, Basu S, Bearer C, Benner EJ, Biselele T, Bliznyuk N, Breckpot J, Carey G, Chao A, Christiansen LI, Comani S, Croce P, De Vos M, Dereymaeker A, Dubois L, Eisch AJ, Epstein A, Geva N, Geva Y, Gewillig M, Gillis S, Goldberg RN, Gram M, Gregory S, Guez-Barber D, Hayakawa M, Henriksen NL, Hermans T, Hershkovitz R, Holgersen K, Holmqvist B, Jain V, Jansen K, Kandula V, Kapse K, Kawaguchi M, Khair A, Khazaei M, Kidokoro H, Kiffer FC, Kisilewicz K, Kumai S, Lacaille H, Ley D, Limperopoulos C, Lindholm SEH, Lukusa P, Lundberg R, MacFarlane P, Matak P, Mavinga L, Mayer C, Mbayabo G, Mitsumatsu T, Mubungu G, Murnick J, Nakata T, Narita H, Nataraj P, Natsume J, Naulaers G, Nikam R, Ortenlöf N, Ottolini K, Pan X, Pankratova S, Pegram K, Penn AA, Pradhan S, Raeisi K, Rickman N, Rikard B, Rotem R, Sangild PT, Sato Y, Sawamura F, Shany E, Shelef I, Shiraki A, Smets L, Sura L, Suzui R, Suzuki T, Tady BP, Taga G, Tamburro G, Thewissen L, Thompson JW, Thymann T, Tokat C, Vacher CM, Valdes C, Vallius S, Vatolin S, Watanabe H, Weintraub AY, Weiss M, Yamamoto H, Yaniv SS, Younge N, Yun S, Zappasodi F. Abdi K, et al. Among authors: breckpot j. J Neonatal Perinatal Med. 2022;15(2):411-426. doi: 10.3233/NPM-229002. J Neonatal Perinatal Med. 2022. PMID: 35431185 No abstract available.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium. Herman SB, et al. Among authors: breckpot j. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034814 Free PMC article.
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Among authors: breckpot j. Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. Am J Hum Genet. 2018. PMID: 30193139 Free PMC article. No abstract available.
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: breckpot j. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Guo T, Diacou A, Nomaru H, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, Kates WR, Gothelf D, Schneider M, Eliez S, Breckpot J, Swillen A, Vorstman J, Zackai E, Benavides Gonzalez F, Repetto GM, Emanuel BS, Bassett AS, Vermeesch JR, Marshall CR, Morrow BE; International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia. Guo T, et al. Among authors: breckpot j. Hum Mol Genet. 2018 Apr 1;27(7):1150-1163. doi: 10.1093/hmg/ddy028. Hum Mol Genet. 2018. PMID: 29361080 Free PMC article.
102 results