Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Published in Nature communications (03.10.2018)
Published in Nature communications (03.10.2018)
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The implementation of unit-based perinatal mortality audit in perinatal cooperation units in the northern region of the Netherlands
van Diem, Mariet Th, Timmer, Albertus, Bergman, Klasien A, Bouman, Katelijne, van Egmond, Nico, Stant, Dennis A, Ulkeman, Lida H M, Veen, Wenda B, Erwich, Jan Jaap H M
Published in BMC health services research (09.07.2012)
Published in BMC health services research (09.07.2012)
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Jejunoileal atresia and cystic fibrosis: don't miss it
Siersma, Carolien L, Rottier, Bart L, Hulscher, Jan Bf, Bouman, Katelijne, van Stuijvenberg, Margriet
Published in BMC research notes (07.12.2012)
Published in BMC research notes (07.12.2012)
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Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy
Plantinga, Mirjam, Zwienenberg, Lauren, Dijk, Eva, Breet, Hanna, Diphoorn, Janouk, El Mecky, Julia, Bouman, Katelijne, Verheij, Joke, Birnie, Erwin, Ranchor, Adelita V., Corsten‐Janssen, Nicole, Langen, Irene M.
Published in Prenatal diagnosis (01.05.2022)
Published in Prenatal diagnosis (01.05.2022)
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Journal Article
Effect of prenatal screening on trends in perinatal mortality associated with congenital anomalies before and after the introduction of prenatal screening: A population‐based study in the Northern Netherlands
Bardi, Francesca, Bergman, Jorieke E. H., Bouman, Katelijne, Erwich, Jan Jaap, Duin, Leonie K., Walle, Hermien E. K., Bakker, Marian K.
Published in Paediatric and perinatal epidemiology (01.11.2021)
Published in Paediatric and perinatal epidemiology (01.11.2021)
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Journal Article
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, Diemen, Cleo C.
Published in Prenatal diagnosis (01.09.2020)
Published in Prenatal diagnosis (01.09.2020)
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Journal Article
Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: Findings from a large European cohort
Groen, Henk, Bouman, Katelijne, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Haeusler, Martin, Yevtushok, Lyubov, Loane, Maria, Erwich, Jan Jaap H.M., Walle, Hermien E.K.
Published in Prenatal diagnosis (01.11.2017)
Published in Prenatal diagnosis (01.11.2017)
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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
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 Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R
Published in The Journal of clinical investigation (01.03.2021)
Published in The Journal of clinical investigation (01.03.2021)
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Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014
Heijligers, Malou, van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, van der Schoot, Vyne, van Deursen-Luijten, Marieke, Muntjewerff, Nienke, Peeters, Andrea, van Golde, Ron, van der Hoeven, Mark, Arens, Yvonne, de Die-Smulders, Christine
Published in Journal of assisted reproduction and genetics (01.11.2018)
Published in Journal of assisted reproduction and genetics (01.11.2018)
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Journal Article
The introduction of arrays in prenatal diagnosis: A special challenge
Vetro, Annalisa, Bouman, Katelijne, Hastings, Ros, McMullan, Dominic J., Vermeesch, Joris R., Miller, Konstantin, Sikkema-Raddatz, Birgit, Ledbetter, David H., Zuffardi, Orsetta, van Ravenswaaij-Arts, Conny M.A.
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
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Journal Article
Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
Sikkema-Raddatz, Birgit, Johansson, Lennart F, de Boer, Eddy N, Boon, Elles M J, Suijkerbuijk, Ron F, Bouman, Katelijne, Bilardo, Catia M, Swertz, Morris A, Dijkstra, Martijn, van Langen, Irene M, Sinke, Richard J, Te Meerman, Gerard J
Published in Scientific reports (05.12.2016)
Published in Scientific reports (05.12.2016)
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Journal Article
Cytogenetic Analysis After Evaluation of 750 Fetal Deaths : Proposal for Diagnostic Workup
KORTEWEG, Fleurisca J, BOUMAN, Katelijne, ERWICH, Jan Jaap H. M, TIMMER, Albertus, VEEGER, Nic J. G. M, RAVISE, Joke M, NIJMAN, Thomas H, HOLM, Jozien P
Published in Obstetrics and gynecology (New York. 1953) (01.04.2008)
Published in Obstetrics and gynecology (New York. 1953) (01.04.2008)
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Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy
Buiter, Hannah D, Holswilder-Olde Scholtenhuis, Marloes A G, Bouman, Katelijne, van Baren, Robertine, Bilardo, Caterina M, Bos, Arend F
Published in Archives of disease in childhood. Fetal and neonatal edition (01.05.2013)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.05.2013)
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The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands
Bouman, Katelijne, Bakker, Marian K, Birnie, Erwin, Ter Beek, Lies, Bilardo, Caterina M, van Langen, Irene M, de Walle, Hermien E K
Published in BMC pregnancy and childbirth (05.01.2017)
Published in BMC pregnancy and childbirth (05.01.2017)
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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
Majava, Marja, Hoornaert, Kristien P., Bartholdi, Deborah, Bouma, Mieke C., Bouman, Katelijne, Carrera, Marta, Devriendt, Koenraad, Hurst, Jane, Kitsos, George, Niedrist, Dunja, Petersen, Michael B., Shears, Debbie, Stolte-Dijkstra, Irene, Van Hagen, J.M., Ala-Kokko, Leena, Männikkö, Minna, Mortier, Geert R.
Published in American journal of medical genetics. Part A (01.02.2007)
Published in American journal of medical genetics. Part A (01.02.2007)
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Journal Article
Pathogenic variants in glutamyl-tRNA Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Friederich, Marisa W, Timal, Sharita, Powell, Christopher A, Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G J, Bick, David, Bouman, Katelijne, Chatfield, Kathryn C, Damouny-Naoum, Nadine, Dishop, Megan K, Falik-Zaccai, Tzipora C, Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C, Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K, Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J M, Rebelo-Guiomar, Pedro F, Saada, Ann, Sainz, Jr, Bruno, Salvemini, Hayley, Schoots, Mirthe H, Smeitink, Jan A, Szukszto, Maciej J, Ter Horst, Hendrik J, van den Brandt, Frans, van Spronsen, Francjan J, Veltman, Joris A, Wartchow, Eric, Wintjes, Liesbeth T, Zohar, Yaniv, Fernández-Moreno, Miguel A, Baris, Hagit N, Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J, Van Hove, Johan L K
Published in Nature communications (03.10.2018)
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Published in Nature communications (03.10.2018)
Journal Article
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study
Boormans, Elisabeth M A, Birnie, Erwin, Wildschut, Hajo I, Schuring-Blom, Heleen G, Oepkes, Dick, van Oppen, Carla A C, Nijhuis, Jan G, Macville, Merryn V E, Kooper, Angelique J A, Huijsdens, Karin, Hoffer, Mariëtte V J, Go, Attie, Creemers, Johan, Bhola, Shama L, Bilardo, Katia M, Suijkerbuijk, Ron, Bouman, Katelijne, Galjaard, Robert-Jan H, Bonsel, Gouke J, van Lith, Jan Mm
Published in BMC pregnancy and childbirth (20.05.2008)
Published in BMC pregnancy and childbirth (20.05.2008)
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Journal Article
Quality aspects of prenatal cytogenetic diagnosis: determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis
Sikkema-Raddatz, Birgit, Suijkerbuijk, Ron, Bouman, Katelijne, de Jong, Bauke, Buys, Charles H.C.M., te Meerman, Gerard J.
Published in Prenatal diagnosis (01.09.2006)
Published in Prenatal diagnosis (01.09.2006)
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Journal Article
Clinical signs of cystic fibrosis in adult patients
van de Belt, Emmy C M, Kraan, Jan, Bouman, Katelijne, ter Maaten, Jan C
Published in Nederlands tijdschrift voor geneeskunde (14.03.2009)
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Published in Nederlands tijdschrift voor geneeskunde (14.03.2009)
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