OpenURL Connection Search

Select item for more details and to access through your institution.

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.
Published in:
2022
By:
- 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 H;
- Lubitz, Steven;
- Makita, Naomasa;
- Ohno, Seiko;
- Ortiz-Genga, Martín;
- Sacilotto, Luciana
Publication type:
journal article
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1889, doi. 10.1002/ajmg.a.63222
By:
- Pelgrims, Elise;
- Lynch, Sally Ann;
- Hannes, Laurens;
- Hoffer, Mariëtte J. V.;
- Melotte, Cindy;
- Van Haeringen, Arie;
- Swillen, Ann;
- Breckpot, Jeroen
Publication type:
Article
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 46, doi. 10.1002/ajmg.a.62487
By:
- Verbesselt, Jente;
- Zink, Inge;
- Breckpot, Jeroen;
- Swillen, Ann
Publication type:
Article
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2172, doi. 10.1002/ajmg.a.40359
By:
- Zhao, Yingjie;
- Guo, Tingwei;
- Fiksinski, Ania;
- Breetvelt, Elemi;
- McDonald‐McGinn, Donna M.;
- Crowley, Terrence B.;
- Diacou, Alexander;
- Schneider, Maude;
- Eliez, Stephan;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris;
- Chow, Eva W. C.;
- Gothelf, Doron;
- Duijff, Sasja;
- Evers, Rens;
- Amelsvoort, Thérèse A.;
- Bree, Marianne;
- Owen, Michael;
- Niarchou, Maria
Publication type:
Article
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1822, doi. 10.1002/ajmg.a.37108
By:
- Jia, Yaojuan;
- Louw, Jacoba J.;
- Breckpot, Jeroen;
- Callewaert, Bert;
- Barrea, Catherine;
- Sznajer, Yves;
- Gewillig, Marc;
- Souche, Erika;
- Dehaspe, Luc;
- Vermeesch, Joris Robert;
- Lambrechts, Diether;
- Devriendt, Koenraad;
- Corveleyn, Anniek
Publication type:
Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3148, doi. 10.1002/ajmg.a.35665
By:
- Longoni, Mauro;
- Lage, Kasper;
- Russell, Meaghan K.;
- Loscertales, Maria;
- Abdul-Rahman, Omar A.;
- Baynam, Gareth;
- Bleyl, Steven B.;
- Brady, Paul D.;
- Breckpot, Jeroen;
- Chen, Chih P.;
- Devriendt, Koenraad;
- Gillessen-Kaesbach, Gabriele;
- Grix, Arthur W.;
- Rope, Alan F.;
- Shimokawa, Osamu;
- Strauss, Bernarda;
- Wieczorek, Dagmar;
- Zackai, Elaine H.;
- Coletti, Caroline M.;
- Maalouf, Faouzi I.
Publication type:
Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
By:
- Herman, Sean B.;
- Guo, Tingwei;
- McGinn, Donna M. McDonald;
- Blonska, Anna;
- Shanske, Alan L.;
- Bassett, Anne S.;
- Chow, Eva W.C.;
- Bowser, Mark;
- Sheridan, Molly;
- Beemer, Frits;
- Devriendt, Koen;
- Swillen, Ann;
- Breckpot, Jeroen;
- Digilio, M. Cristina;
- Marino, Bruno;
- Dallapiccola, Bruno;
- Carpenter, Courtney;
- Zheng, Xin;
- Johnson, Jacob;
- Chung, Jonathan
Publication type:
Article
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 574, doi. 10.1002/ajmg.a.35217
By:
- Breckpot, Jeroen;
- Thienpont, Bernard;
- Bauters, Marijke;
- Tranchevent, Leon-Charles;
- Gewillig, Marc;
- Allegaert, Karel;
- Vermeesch, Joris R.;
- Moreau, Yves;
- Devriendt, Koenraad
Publication type:
Article
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Published in:
Nature Genetics, 2013, v. 45, n. 7, p. 822, doi. 10.1038/ng.2637
By:
- Cordell, Heather J;
- Bentham, Jamie;
- Topf, Ana;
- Zelenika, Diana;
- Heath, Simon;
- Mamasoula, Chrysovalanto;
- Cosgrove, Catherine;
- Blue, Gillian;
- Granados-Riveron, Javier;
- Setchfield, Kerry;
- Thornborough, Chris;
- Breckpot, Jeroen;
- Soemedi, Rachel;
- Martin, Ruairidh;
- Rahman, Thahira J;
- Hall, Darroch;
- van Engelen, Klaartje;
- Moorman, Antoon F M;
- Zwinderman, Aelko H;
- Barnett, Phil
Publication type:
Article
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
Published in:
PLoS Genetics, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.pgen.1007138
By:
- Louw, Jacoba J.;
- Nunes Bastos, Ricardo;
- Chen, Xiaowen;
- Verdood, Céline;
- Corveleyn, Anniek;
- Jia, Yaojuan;
- Breckpot, Jeroen;
- Gewillig, Marc;
- Peeters, Hilde;
- Santoro, Massimo M.;
- Barr, Francis;
- Devriendt, Koenraad
Publication type:
Article
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01383-8
By:
- Lesurf, Robert;
- Breckpot, Jeroen;
- Bouwmeester, Jade;
- Hanafi, Nour;
- Jain, Anjali;
- Liang, Yijing;
- Papaz, Tanya;
- Lougheed, Jane;
- Mondal, Tapas;
- Alsalehi, Mahmoud;
- Altamirano-Diaz, Luis;
- Oechslin, Erwin;
- Audain, Enrique;
- Dombrowsky, Gregor;
- Postma, Alex V.;
- Woudstra, Odilia I.;
- Bouma, Berto J.;
- Hitz, Marc-Phillip;
- Bezzina, Connie R.;
- Blue, Gillian M.
Publication type:
Article
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Published in:
2021
By:
- Audain, Enrique;
- Wilsdon, Anna;
- Breckpot, Jeroen;
- Izarzugaza, Jose M. G.;
- Fitzgerald, Tomas W.;
- Kahlert, Anne-Karin;
- Sifrim, Alejandro;
- Wünnemann, Florian;
- Perez-Riverol, Yasset;
- Abdul-Khaliq, Hashim;
- Bak, Mads;
- Bassett, Anne S.;
- Benson, D. Woodrow;
- Berger, Felix;
- Daehnert, Ingo;
- Devriendt, Koenraad;
- Dittrich, Sven;
- Daubeney, Piers EF;
- Garg, Vidu;
- Hackmann, Karl
Publication type:
Correction Notice
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Published in:
PLoS Genetics, 2021, v. 17, n. 7, p. 1, doi. 10.1371/journal.pgen.1009679
By:
- Audain, Enrique;
- Wilsdon, Anna;
- Breckpot, Jeroen;
- Izarzugaza, Jose MG;
- Fitzgerald, Tomas W.;
- Kahlert, Anne-Karin;
- Sifrim, Alejandro;
- Wünnemann, Florian;
- Perez-Riverol, Yasset;
- Abdul-Khaliq, Hashim;
- Bak, Mads;
- Bassett, Anne S.;
- Benson, Woodrow D.;
- Berger, Felix;
- Daehnert, Ingo;
- Devriendt, Koenraad;
- Dittrich, Sven;
- Daubeney, Piers EF;
- Garg, Vidu;
- Hackmann, Karl
Publication type:
Article
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Published in:
Human Genetics, 2016, v. 135, n. 3, p. 273, doi. 10.1007/s00439-015-1623-9
By:
- Mlynarski, Elisabeth;
- Xie, Michael;
- Taylor, Deanne;
- Sheridan, Molly;
- Guo, Tingwei;
- Racedo, Silvia;
- McDonald-McGinn, Donna;
- Chow, Eva;
- Vorstman, Jacob;
- Swillen, Ann;
- Devriendt, Koen;
- Breckpot, Jeroen;
- Digilio, Maria;
- Marino, Bruno;
- Dallapiccola, Bruno;
- Philip, Nicole;
- Simon, Tony;
- Roberts, Amy;
- Piotrowicz, Małgorzata;
- Bearden, Carrie
Publication type:
Article
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
By:
- Zhao, Yingjie;
- Wang, Yujue;
- Shi, Lijie;
- McDonald-McGinn, Donna M.;
- Crowley, T. Blaine;
- McGinn, Daniel E.;
- Tran, Oanh T.;
- Miller, Daniella;
- Lin, Jhih-Rong;
- Zackai, Elaine;
- Johnston, H. Richard;
- Chow, Eva W. C.;
- Vorstman, Jacob A. S.;
- Vingerhoets, Claudia;
- van Amelsvoort, Therese;
- Gothelf, Doron;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris R.;
- Eliez, Stephan
Publication type:
Article
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00288-y
By:
- Lesurf, Robert;
- Said, Abdelrahman;
- Akinrinade, Oyediran;
- Breckpot, Jeroen;
- Delfosse, Kathleen;
- Liu, Ting;
- Yao, Roderick;
- Persad, Gabrielle;
- McKenna, Fintan;
- Noche, Ramil R.;
- Oliveros, Winona;
- Mattioli, Kaia;
- Shah, Shreya;
- Miron, Anastasia;
- Yang, Qian;
- Meng, Guoliang;
- Yue, Michelle Chan Seng;
- Sung, Wilson W. L.;
- Thiruvahindrapuram, Bhooma;
- Lougheed, Jane
Publication type:
Article
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.
Published in:
Journal of Arrhythmia, 2022, v. 38, n. 4, p. 491, doi. 10.1002/joa3.12717
By:
- 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, Michael H.;
- Lubitz, Steven;
- Makita, Naomasa;
- Ohno, Seiko;
- Ortiz‐Genga, Martín;
- Sacilotto, Luciana
Publication type:
Article
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.
Published in:
Lung, 2024, n. 3, p. 291, doi. 10.1007/s00408-024-00696-0
By:
- Rodriguez Mier, Noelia;
- Jaspers, Martine;
- Van Hoof, Evelien;
- Jorissen, Mark;
- Lorent, Natalie;
- Proesmans, Marijke;
- Vermeulen, François;
- Breckpot, Jeroen;
- Boon, Mieke
Publication type:
Article
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.
Published in:
Lung, 2024, v. 202, n. 3, p. 291, doi. 10.1007/s00408-024-00696-0
By:
- Rodriguez Mier, Noelia;
- Jaspers, Martine;
- Van Hoof, Evelien;
- Jorissen, Mark;
- Lorent, Natalie;
- Proesmans, Marijke;
- Vermeulen, François;
- Breckpot, Jeroen;
- Boon, Mieke
Publication type:
Article
A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1050, doi. 10.1038/ejhg.2008.58
By:
- Breckpot, Jeroen;
- Takiyama, Yoshihisa;
- Thienpont, Bernard;
- Van Vooren, Steven;
- Vermeesch, Joris Robert;
- Ortibus, Els;
- Devriendt, Koenraad
Publication type:
Article
Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential.
Published in:
European Journal of Preventive Cardiology, 2019, v. 26, n. 15, p. 1670, doi. 10.1177/2047487319860296
By:
- Breckpot, Jeroen
Publication type:
Article
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 462, doi. 10.1111/cge.13908
By:
- Lopergolo, Diego;
- Privitera, Flavia;
- Castello, Giuseppe;
- Lo Rizzo, Caterina;
- Mencarelli, Maria Antonietta;
- Pinto, Anna Maria;
- Ariani, Francesca;
- Currò, Aurora;
- Lamacchia, Vittoria;
- Canitano, Roberto;
- Vaghi, Elisabetta;
- Ferrarini, Alessandra;
- Baltodano, Gerardo Mejia;
- Lederer, Damien;
- Van Maldergem, Lionel;
- Serrano, Mercedes;
- Pineda, Mercè;
- Fons‐Estupina, Maria Del Carmen;
- Van Esch, Hilde;
- Breckpot, Jeroen
Publication type:
Article
Isolated sulfite oxidase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 101, doi. 10.1007/s10545-017-0089-4
By:
- Claerhout, Helena;
- Witters, Peter;
- Régal, Luc;
- Jansen, Katrien;
- Van Hoestenberghe, Marie-Rose;
- Breckpot, Jeroen;
- Vermeersch, Pieter
Publication type:
Article
Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76192-1
By:
- Jühlen, Ramona;
- Martinelli, Valérie;
- Vinci, Chiara;
- Breckpot, Jeroen;
- Fahrenkrog, Birthe
Publication type:
Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
By:
- 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 S;
- Chow, Eva W C;
- Shashi, Vandana;
- Brain, International 22q11.2;
- Consortium, Behavior
Publication type:
Article
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 7, p. 1150, doi. 10.1093/hmg/ddy028
By:
- Tingwei Guo;
- Diacou, Alexander;
- Hiroko Nomaru;
- McDonald-McGinn, Donna M.;
- Hestand, Matthew;
- Demaerel, Wolfram;
- Liangtian Zhang;
- Yingjie Zhao;
- Ujueta, Francisco;
- Jidong Shan;
- Montagna, Cristina;
- Deyou Zheng;
- Crowley, Terrence B.;
- Kushan-Wells, Leila;
- Bearden, Carrie E.;
- Kates, Wendy R.;
- Gothelf, Doron;
- Schneider, Maude;
- Eliez, Stephan;
- Breckpot, Jeroen
Publication type:
Article
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 7, p. 1513, doi. 10.1093/hmg/ddr589
By:
- Soemedi, Rachel;
- Topf, Ana;
- Wilson, Ian J.;
- Darlay, Rebecca;
- Rahman, Thahira;
- Glen, Elise;
- Hall, Darroch;
- Huang, Ni;
- Bentham, Jamie;
- Bhattacharya, Shoumo;
- Cosgrove, Catherine;
- Brook, J. David;
- Granados-Riveron, Javier;
- Setchfield, Kerry;
- Bu'Lock, Frances;
- Thornborough, Chris;
- Devriendt, Koenraad;
- Breckpot, Jeroen;
- Hofbeck, Michael;
- Lathrop, Mark
Publication type:
Article
Severe biventricular hypertrophy in MELAS mitochondrial disease.
Published in:
European Heart Journal - Cardiovascular Imaging, 2017, v. 18, n. 1, p. 112, doi. 10.1093/ehjci/jew184
By:
- Debrauwere, Jan;
- Buysschaert, Ian;
- Rosseel, Liesbeth;
- Breckpot, Jeroen;
- Seneca, Sara
Publication type:
Article
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0618-0
By:
- Papaz, Tanya;
- Liston, Eriskay;
- Zahavich, Laura;
- Stavropoulos, Dimitri J.;
- Jobling, Rebekah K.;
- Kim, Raymond H.;
- Reuter, Miriam;
- Miron, Anastasia;
- Oechslin, Erwin;
- Mondal, Tapas;
- Bergin, Lynn;
- Smythe, John F.;
- Altamirano-Diaz, Luis;
- Lougheed, Jane;
- Yao, Roderick;
- Akinrinade, Oyediran;
- Breckpot, Jeroen;
- Mital, Seema
Publication type:
Article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.
Published in:
Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568
By:
- Guo, Tingwei;
- McDonald-McGinn, Donna;
- Blonska, Anna;
- Shanske, Alan;
- Bassett, Anne S.;
- Chow, Eva;
- Bowser, Mark;
- Sheridan, Molly;
- Beemer, Frits;
- Devriendt, Koen;
- Swillen, Ann;
- Breckpot, Jeroen;
- Digilio, Maria C.;
- Marino, Bruno;
- Dallapiccola, Bruno;
- Carpenter, Courtney;
- Zheng, Xin;
- Johnson, Jacob;
- Chung, Jonathan;
- Higgins, Anne Marie
Publication type:
Article
A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery.
Published in:
2020
By:
- Veldeman, Laurens;
- Robbrecht, Saskia;
- Breckpot, Jeroen;
- Weynand, Birgit;
- Decallonne, Brigitte
Publication type:
journal article
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.
Published in:
2018
By:
- Robyns, Tomas;
- Nuyens, Dieter;
- Vandenberk, Bert;
- Kuiperi, Cuno;
- Corveleyn, Anniek;
- Breckpot, Jeroen;
- Garweg, Christophe;
- Ector, Joris;
- Willems, Rik
Publication type:
journal article
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.
Published in:
Genes, 2023, v. 14, n. 3, p. 679, doi. 10.3390/genes14030679
By:
- Verbesselt, Jente;
- Solot, Cynthia B.;
- Van Den Heuvel, Ellen;
- Crowley, T. Blaine;
- Giunta, Victoria;
- Breckpot, Jeroen;
- McDonald-McGinn, Donna M.;
- Zink, Inge;
- Swillen, Ann
Publication type:
Article
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Published in:
Genes, 2023, v. 14, n. 1, p. 160, doi. 10.3390/genes14010160
By:
- 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.;
- Óskarsdóttir, Sólveig;
- Boot, Erik;
- Garcia-Minaur, Sixto;
- Cristina Digilio, Maria;
- Marino, Bruno;
- Coleman, Beverly;
- Moldenhauer, Julie S.;
- Bassett, Anne S.;
- McDonald-McGinn, Donna M.
Publication type:
Article
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101801
By:
- Verbesselt, Jente;
- Van Den Heuvel, Ellen;
- Breckpot, Jeroen;
- Zink, Inge;
- Swillen, Ann
Publication type:
Article
Collaboratively charting the gene-to-phenotype network of human congenital heart defects.
Published in:
Genome Medicine, 2010, v. 2, n. 3, p. 1, doi. 10.1186/gm137
By:
- Barriot, Roland;
- Breckpot, Jeroen;
- Thienpont, Bernard;
- Brohée, Sylvain;
- Vooren, Steven Van;
- Coessens, Bert;
- Tranchevent, Leon-Charles;
- Loo, Peter Van;
- Gewillig, Marc;
- Devriendt, Koenraad;
- Moreau, Yves
Publication type:
Article
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00772-z
By:
- 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;
- Thienpont, Bernard;
- Breckpot, Jeroen;
- Gewillig, Marc;
- Competence Network for Congenital Heart Defects, Germany;
- Abdul-Khaliq, Hashim;
- Kramer, Hans-Heiner;
- Berger, Felix;
- Stiller, Brigitte;
- Bauer, Ulrike;
- Pickardt, Thomas
Publication type:
Article

Found: 37