Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74 von Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., van Haelst, Mieke M.

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PLS3 Mutations in X-Linked Osteoporosis with Fractures von van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard

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Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian von van den Akker, Erik B., Makrodimitris, Stavros, Hulsman, Marc, Brugman, Martijn H., Nikolic, Tatjana, Bradley, Ted, Waisfisz, Quinten, Baas, Frank, Jakobs, Marja E., de Jong, Daphne, Slagboom, P. Eline, Staal, Frank J. T., Reinders, Marcel J. T., Holstege, Henne

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Benign and malignant tumors in Rubinstein–Taybi syndrome von Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., de Jong, Daphne

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Mutations in RARS cause hypomyelination von Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo S., Waisfisz, Quinten

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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J von Wiegant, Wouter W, De Winter, Johan P, Rooimans, Martin A, Waisfisz, Quinten, Pals, Gerard, Hiom, Kevin, Elghalbzouri-Maghrani, Elhaam, Levitus, Marieke, Joenje, Hans, Vries, Yne de, Hussain, Shobbir, Zdzienicka, Ma gorzata Z, Steltenpool, Jûrgen, Godthelp, Barbara C, Mathew, Christopher G, Arwert, Fré

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High Stem Cell Frequency in Acute Myeloid Leukemia at Diagnosis Predicts High Minimal Residual Disease and Poor Survival von VAN RHENEN, Anna, FELLER, Nicole, KELDER, Angèle, WESTRA, August H, ROMBOUTS, Elwin, ZWEEGMAN, Sonja, VAN DER POL, Marjolein A, WAISFISZ, Quinten, OSSENKOPPELE, Gert J, SCHUURHUIS, Gerrit Jan

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Recessive ITPA mutations cause an early infantile encephalopathy von 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.

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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene von van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten

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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms von van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

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Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases von Rizzuto, Valeria, Koopmann, Tamara T., Blanco-Alvarez, Adoracion, Tazon-Vega, Barbara, Idrizovic, Amira, Diaz de Heredia, Cristina, Del Orbe, Rafael, Vara Pampliega, Miriam, Velasco, Pablo, Beneitez, David, Santen, Gijs W. E., Waisfisz, Quinten, Elting, Mariet, Smiers, Frans J. W., de Pagter, Anne J., Kerkhoffs, Jean-Louis H., Harteveld, Cornelis L., del Mar Manu-Pereira, Maria

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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence von Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J

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Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients von Ceccaldi, Raphael, Briot, Delphine, Larghero, Jérôme, Vasquez, Nadia, Dubois d’Enghien, Catherine, Chamousset, Delphine, Noguera, Maria-Elena, Waisfisz, Quinten, Hermine, Olivier, Pondarre, Corinne, Leblanc, Thierry, Gluckman, Eliane, Joenje, Hans, Stoppa-Lyonnet, Dominique, Socié, Gérard, Soulier, Jean

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Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes von Levitus, Marieke, Rooimans, Martin A., Steltenpool, Jûrgen, Cool, Nicolle F.C., Oostra, Anneke B., Mathew, Christopher G., Hoatlin, Maureen E., Waisfisz, Quinten, Arwert, Fré, de Winter, Johan P., Joenje, Hans

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder von Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske

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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy von Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., Kamp, Jiddeke M., Hasselt, Peter M.

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The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2 von van der Lelij, Petra, Godthelp, Barbara C, van Zon, Wouter, van Gosliga, Djoke, Oostra, Anneke B, Steltenpool, Jûrgen, de Groot, Jan, Scheper, Rik J, Wolthuis, Rob M, Waisfisz, Quinten, Darroudi, Firouz, Joenje, Hans, de Winter, Johan P

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Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review von Tjon, Jill K., Lakeman, Phillis, Leeuwen, Elisabeth, Waisfisz, Quinten, Weiss, Marjan M., Tan‐Sindhunata, Gita M. B., Nikkels, Peter G. J., Voorn, Patrick J. P., Salomons, Gajja S., Burchell, George L., Linskens, Ingeborg H., Knoop, Bloeme J., Vries, Johanna I. P.

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Activated Intrinsic Apoptosis Pathway Is a Key Related Prognostic Parameter in Acute Myeloid Leukemia von HESS, Corine J, BERKHOF, Johannes, DENKERS, Fedor, OSSENKOPPELE, Gert J, SCHOUTEN, Jan P, OUDEJANS, Joost J, WAISFISZ, Quinten, SCHUURHUIS, Gerrit J

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Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus von Starink, Theo M., MD, PhD, Houweling, Arjan C., MD, PhD, van Doorn, Martijn B.A., MD, PhD, Leter, Edward M., MD, PhD, Jaspars, Elisabeth H., MD, PhD, van Moorselaar, R. Jeroen A., MD, PhD, Postmus, Piet E., MD, PhD, Johannesma, Paul C., MD, van Waesberghe, Jan Hein, MD, PhD, Ploeger, Martijn H., RN, Kramer, Marieke T., MSc, Gille, Johan J.P., PhD, Waisfisz, Quinten, PhD, Menko, Fred H., MD, PhD

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