Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

od Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.
Izdano u Am J Med Genet A (2020)

Identifying pathogenic variants in the Follistatin‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders

od Prakash, Stuti, Mattiotti, Andrea, Sylva, Marc, Mulder, Barbara J. M., Postma, Alex V., van den Hoff, Maurice J. B.
Izdano u Mol Genet Genomic Med (2019)

Identifying the Evolutionary Building Blocks of the Cardiac Conduction System

od Jensen, Bjarke, Boukens, Bastiaan J. D., Postma, Alex V., Gunst, Quinn D., van den Hoff, Maurice J. B., Moorman, Antoon F. M., Wang, Tobias, Christoffels, Vincent M.
Izdano 2012

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

od Lahrouchi, Najim, Lodder, Elisabeth M, Mansouri, Maria, Tadros, Rafik, Zniber, Layla, Adadi, Najlae, Clur, Sally-Ann B, van Spaendonck-Zwarts, Karin Y, Postma, Alex V, Sefiani, Abdelaziz, Ratbi, Ilham, Bezzina, Connie R
Izdano u Eur J Hum Genet (2017)

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

od van Engelen, Klaartje, Mommersteeg, Mathilda T. M., Baars, Marieke J. H., Lam, Jan, Ilgun, Aho, van Trotsenburg, A. S. Paul, Smets, Anne M. J. B., Christoffels, Vincent M., Mulder, Barbara J. M., Postma, Alex V.
Izdano 2012

Specialized impulse conduction pathway in the alligator heart

od Jensen, Bjarke, Boukens, Bastiaan J, Crossley, Dane A, Conner, Justin, Mohan, Rajiv A, van Duijvenboden, Karel, Postma, Alex V, Gloschat, Christopher R, Elsey, Ruth M, Sedmera, David, Efimov, Igor R, Christoffels, Vincent M
Izdano u eLife (2018)

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

od van Engelen, Klaartje, Merks, Johannes H. M., Lam, Jan, Kremer, Leontien C. M., Backes, Manouk, Baars, Marieke J. H., van der Pal, Heleen J. H., Postma, Alex V., Versteeg, Rogier, Caron, Huib N., Mulder, Barbara J. M.
Izdano 2008

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

od Thienpont, Bernard, Zhang, Litu, Postma, Alex V., Breckpot, Jeroen, Tranchevent, Léon-Charles, Van Loo, Peter, Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Zeynep, van Engelen, Klaartje, Menten, Björn, Mortier, Geert, Waggoner, Darrel, Gewillig, Marc, Moreau, Yves, Devriendt, Koen, Larsen, Lars Allan
Izdano 2010

Familial co-occurrence of congenital heart defects follows distinct patterns

od Ellesøe, Sabrina G, Workman, Christopher T, Bouvagnet, Patrice, Loffredo, Christopher A, McBride, Kim L, Hinton, Robert B, van Engelen, Klaartje, Gertsen, Emma C, Mulder, Barbara J M, Postma, Alex V, Anderson, Robert H, Hjortdal, Vibeke E, Brunak, Søren, Larsen, Lars A
Izdano u Eur Heart J (2018)

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

od van de Meerakker, Judith B A, van Engelen, Klaartje, Mathijssen, Inge B, Lekanne dit Deprez, Ronald H, Lam, Jan, Wilde, Arthur A M, Baars, Marieke J H, Mannens, Marcel M A M, Mulder, Barbara J M, Moorman, Antoon F M, Postma, Alex V
Izdano 2011

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

od Ferrer, Christina M., Alders, Marielle, Postma, Alex V., Park, Seonmi, Klein, Mark A., Cetinbas, Murat, Pajkrt, Eva, Glas, Astrid, van Koningsbruggen, Silvana, Christoffels, Vincent M., Mannens, Marcel M.A.M., Knegt, Lia, Etchegaray, Jean-Pierre, Sadreyev, Ruslan I., Denu, John M., Mostoslavsky, Gustavo, van Maarle, Merel C., Mostoslavsky, Raul
Izdano u Genes Dev (2018)

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

od Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., van Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Izdano u Am J Med Genet A (2019)

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

od Houweling, Arjan C., Beaman, Glenda M., Postma, Alex V., Gainous, T. Blair, Lichtenbelt, Klaske D., Brancati, Francesco, Lopes, Filipa M., van der Made, Ingeborg, Polstra, Abeltje M., Robinson, Michael L., Wright, Kevin D., Ellingford, Jamie M., Jackson, Ashley R., Overwater, Eline, Genesio, Rita, Romano, Silvio, Camerota, Letizia, D’Angelo, Emanuela, Meijers-Heijboer, Elizabeth J., Christoffels, Vincent M., McHugh, Kirk M., Black, Brian L., Newman, William G., Woolf, Adrian S., Creemers, Esther E.
Izdano u J Clin Invest (2019)

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

od Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex V., Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P., Sefiani, Abdelaziz
Izdano u Nat Commun (2019)

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

od Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.
Izdano 2013

Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot

od 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, Gewillig, Marc, Brook, J. David, Setchfield, Kerry J., Bu'Lock, Frances A., O’Sullivan, John, Stuart, Graham, Bezzina, Connie R., Mulder, Barbara J.M., Postma, Alex V., Bentham, James R., Baron, Martin, Bhaskar, Sanjeev S., Black, Graeme C., Newman, William G., Hentges, Kathryn E., Lathrop, G. Mark, Santibanez-Koref, Mauro, Keavney, Bernard D.
Izdano u Circ Res (2019)

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

od 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, Koopmann, Tamara T., Adriaens, Michiel E., Varro, Andras, George, Alfred L., dos Remedios, Christobal, Bishopric, Nanette H., Bezzina, Connie R., O’Sullivan, John, Gewillig, Marc, Bu’Lock, Frances A., Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, J. David, Mulder, Barbara J.M., Mital, Seema, Postma, Alex V., Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Keavney, Bernard D.
Izdano 2013

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls

od Mamasoula, Chrysovalanto, Prentice, R. Reid, Pierscionek, Tomasz, Pangilinan, Faith, Mills, James L., Druschel, Charlotte, Pass, Kenneth, Russell, Mark W., Hall, Darroch, Töpf, Ana, Brown, Danielle L., Zelenika, Diana, Bentham, Jamie, Cosgrove, Catherine, Bhattacharya, Shoumo, Riveron, Javier Granados, Setchfield, Kerry, Brook, J. David, Bu'Lock, Frances A., Thornborough, Chris, Rahman, Thahira J., Doza, Julian Palomino, Tan, Huay L., O'Sullivan, John, Stuart, A. Graham, Blue, Gillian, Winlaw, David, Postma, Alex V., Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Moorman, Antoon F.M., Rauch, Anita, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Cordell, Heather J., Brody, Lawrence C., Keavney, Bernard D.
Izdano 2013

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

od Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.
Izdano u J Clin Invest (2021)