Guidelines for diagnostic next-generation sequencing
Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
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.
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
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Journal Article
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
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Recommendations for whole genome sequencing in diagnostics for rare diseases
Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women
Becking, Ellis C., Scheffer, Peter G., Henrichs, Jens, Bax, Caroline J., Crombag, Neeltje M.T.H., Weiss, Marjan M., Macville, Merryn V.E., Van Opstal, Diane, Boon, Elles M.J., Sistermans, Erik A., Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N.
Published in American journal of obstetrics and gynecology (01.08.2024)
Published in American journal of obstetrics and gynecology (01.08.2024)
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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Journal Article
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact
Oepkes, Dick, Page-Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring-Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert-Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens-van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
Published in Prenatal diagnosis (01.12.2016)
Published in Prenatal diagnosis (01.12.2016)
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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs‐Hoeijmakers, Janneke, Boon, Elles M. J., Hagen, Johanna M., Zwijnenburg, Petra, Weiss, Marjan M., Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G., Kotzot, Dieter, Mayr, Johannes A., Ben‐Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S., Walsh, Christopher A., Shashi, Vandana, Sullivan, Jennifer A., Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne‐Marie, Charollais, Aude, Rodan, Lance H.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Fetal fraction evaluation in non-invasive prenatal screening (NIPS)
Hestand, Matthew S, Bessem, Mark, van Rijn, Peter, de Menezes, Renee X, Sie, Daoud, Bakker, Ingrid, Boon, Elles M J, Sistermans, Erik A, Weiss, Marjan M
Published in European journal of human genetics : EJHG (01.02.2019)
Published in European journal of human genetics : EJHG (01.02.2019)
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Journal Article
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review
Scheffer, Peter G., Wirjosoekarto, Soetinah A. M., Becking, Ellis C., Weiss, Marjan M., Bax, Caroline J., Oepkes, Dick, Sistermans, Erik A., Henneman, Lidewij, Bekker, Mireille N.
Published in Prenatal diagnosis (01.09.2021)
Published in Prenatal diagnosis (01.09.2021)
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Recessive ITPA mutations cause an early infantile encephalopathy
Kevelam, Sietske H., Bierau, Jörgen, Salvarinova, Ramona, Agrawal, Shakti, Honzik, Tomas, Visser, Dennis, Weiss, Marjan M., Salomons, Gajja S., Abbink, Truus E. M., Waisfisz, Quinten, van der Knaap, Marjo S.
Published in Annals of neurology (01.10.2015)
Published in Annals of neurology (01.10.2015)
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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
Micha, Dimitra, Guo, Dong-chuan, Hilhorst-Hofstee, Yvonne, van Kooten, Fop, Atmaja, Dian, Overwater, Eline, Cayami, Ferdy K., Regalado, Ellen S., van Uffelen, René, Venselaar, Hanka, Faradz, Sultana M.H., Vriend, Gerrit, Weiss, Marjan M., Sistermans, Erik A., Maugeri, Alessandra, Milewicz, Dianna M., Pals, Gerard, van Dijk, Fleur S.
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer
Hofste, Lisa S.M., Geerlings, Maartje J., von Rhein, Daniel, Rütten, Heidi, Westenberg, A. Helen, Weiss, Marjan M., Gilissen, Christian, Hofste, Tom, van der Post, Rachel S., Klarenbeek, Bastiaan R., de Wilt, Johannes H.W., Ligtenberg, Marjolijn J.L., Garms, Linda, Liem, Maite, Rozema, Tom, Wasowicz, Dareczka, Burger, Pim, Polat, Fatih, Reijnders, Koen, de Roos, Marnix, Sietses, Colin
Published in European journal of surgical oncology (01.07.2023)
Published in European journal of surgical oncology (01.07.2023)
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., de Beek, Irma, Dulfer, Eelco, Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander
Published in Clinical immunology (Orlando, Fla.) (01.11.2024)
Published in Clinical immunology (Orlando, Fla.) (01.11.2024)
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