Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome by Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck‐Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andreas, Houge, Gunnar, van Harssel, Jeske J. T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W., Valle, David, Carey, John, Hoover‐Fong, Julie E., Sobreira, Nara L. M.

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 by Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2 by Kevelam, Sietske HG, van Harssel, Jeske JT, van der Zwaag, Bert, Smeets, Hubertus JM, Paulussen, Aimee DC, Lichtenbelt, Klaske D

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Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin by Hochstenbach, Ron, Elferink, Martin G., Zon, Patrick H. A., Lichtenbelt, Klaske D., Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.

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Cell‐free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case by Hochstenbach, Ron, Nikkels, Peter G. J., Elferink, Martin G., Oudijk, Martijn A., Oppen, Carla, Zon, Patrick, Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C. M. L.

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Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cf DNA by a demised trisomy‐14 cotwin by Hochstenbach, Ron, Elferink, Martin G., van Zon, Patrick H. A., Lichtenbelt, Klaske D., van Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs by Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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A Patient With a Mild Holoprosencephaly Spectrum Phenotype and Heterotaxy and a 1.3 Mb Deletion Encompassing GL12 by KEVELAM, Sietske H. G, VAN HARSSEL, Jeske J. T, DER ZWAAG, Bert Van, SMEETS, Hubertus J. M, PAULUSSEN, Aimee D. C, LICHTENBEIT, Klaske D

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Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin by Hochstenbach, Ron, Elferink, Martin G, van Zon, Patrick H A, Lichtenbelt, Klaske D, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L

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Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case by Hochstenbach, Ron, Nikkels, Peter G J, Elferink, Martin G, Oudijk, Martijn A, van Oppen, Carla, van Zon, Patrick, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 by Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.

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