Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

ανά Srebniak, Malgorzata Ilona, Knapen, Maarten F. C. M., Joosten, Marieke, Diderich, Karin E. M., Galjaard, Sander, Van Opstal, Diane
Τόπος έκδοσης Mol Cytogenet (2021)

Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

ανά Petersen, Olav B., Smith, Eric, Van Opstal, Diane, Polak, Marike, Knapen, Maarten F. C. M., Diderich, Karin E. M., Bilardo, Caterina M., Arends, Lidia R., Vogel, Ida, Srebniak, Malgorzata I.
Τόπος έκδοσης Acta Obstet Gynecol Scand (2020)

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

ανά Riedijk, Sam, Diderich, Karin E. M., van der Steen, Sanne L., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., de Vries, Femke A. T., van Opstal, Diane, Tibben, Aad, Galjaard, Robert-Jan H.
Τόπος έκδοσης J Clin Med (2014)

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

ανά Srebniak, Malgorzata I., van Zutven, Laura J. C. M., Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P. J., Knapen, Maarten F. C. M., Cornette, Jerome M. J., Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E. M.
Τόπος έκδοσης Mol Cytogenet (2016)

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

ανά Van Opstal, Diane, Srebniak, Malgorzata I., Polak, Joke, de Vries, Femke, Govaerts, Lutgarde C. P., Joosten, Marieke, Go, Attie T. J. I., Knapen, Maarten F. C. M., van den Berg, Cardi, Diderich, Karin E. M., Galjaard, Robert-Jan H.
Τόπος έκδοσης PLoS One (2016)

Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice

ανά Diderich, Karin E. M., Nicolaije, Claudia, Priemel, Matthias, Waarsing, Jan H., Day, Judd S., Brandt, Renata M. C., Schilling, Arndt F., Botter, Sander M., Weinans, Harrie, van der Horst, Gijsbertus T. J., Hoeijmakers, Jan H. J., van Leeuwen, Johannes P. T. M.
Έκδοση 2011

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

ανά Van Opstal, Diane, van Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, van Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.
Τόπος έκδοσης Prenat Diagn (2019)

Age-Related Skeletal Dynamics and Decrease in Bone Strength in DNA Repair Deficient Male Trichothiodystrophy Mice

ανά Nicolaije, Claudia, Diderich, Karin E. M., Botter, S. M., Priemel, Matthias, Waarsing, Jan H., Day, Judd S., Brandt, Renata M. C., Schilling, Arndt F., Weinans, Harrie, Van der Eerden, Bram C., van der Horst, Gijsbertus T. J., Hoeijmakers, Jan H. J., van Leeuwen, Johannes P. T. M.
Έκδοση 2012

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

ανά Srebniak, Malgorzata I., de Wit, Merel C., Diderich, Karin E. M., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., Bos, Marnix J., Looye-Bruinsma, Gerda A. G., Koningen, Mieke, Go, Attie T. J. I., Galjaard, Robert Jan H., Van Opstal, Diane
Τόπος έκδοσης Mol Cytogenet (2016)

Social and medical need for whole genome high resolution NIPT

ανά Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane
Τόπος έκδοσης Mol Genet Genomic Med (2019)

Impaired Genome Maintenance Suppresses the Growth Hormone–Insulin-Like Growth Factor 1 Axis in Mice with Cockayne Syndrome

ανά van der Pluijm, Ingrid, Garinis, George A, Brandt, Renata M. C, Gorgels, Theo G. M. F, Wijnhoven, Susan W, Diderich, Karin E. M, de Wit, Jan, Mitchell, James R, van Oostrom, Conny, Beems, Rudolf, Niedernhofer, Laura J, Velasco, Susana, Friedberg, Errol C, Tanaka, Kiyoji, van Steeg, Harry, Hoeijmakers, Jan H. J, van der Horst, Gijsbertus T. J
Έκδοση 2007

Correction: Impaired Genome Maintenance Suppresses the Growth Hormone–Insulin-Like Growth Factor 1 Axis in Mice with Cockayne Syndrome

ανά van der Pluijm, Ingrid, Garinis, George A, Brandt, Renata M. C, Gorgels, Theo G. M. F, Wijnhoven, Susan W, Diderich, Karin E. M, de Wit, Jan, Mitchell, James R, van Oostrom, Conny, Beems, Rudolf, Niedernhofer, Laura J, Velasco, Susana, Friedberg, Errol C, Tanaka, Kiyoji, van Steeg, Harry, Hoeijmakers, Jan H. J, van der Horst, Gijsbertus T. J
Έκδοση 2008

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

ανά Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, van Veen, Stefanie, van de Helm, Robert, Go, Attie T.J.I., Knapen, Maarten F.C.M., Papatsonis, Dimitri N.M., Dijkman, Anneke, de Vries, Femke, Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Srebniak, Malgorzata I.
Τόπος έκδοσης Prenat Diagn (2018)

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

ανά van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job
Τόπος έκδοσης Nat Commun (2020)

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

ανά Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Τόπος έκδοσης Acta Obstet Gynecol Scand (2020)

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

ανά Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., van Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, van Zelst‐Stams, Wendy A. G.
Τόπος έκδοσης Prenat Diagn (2020)

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

ανά van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
Τόπος έκδοσης Am J Hum Genet (2019)

Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

ανά Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Έκδοση 2013

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

ανά Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco
Τόπος έκδοσης Am J Hum Genet (2021)