CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype von Bergman, J E H, Janssen, N, Hoefsloot, L H, Jongmans, M C J, Hofstra, R M W, van Ravenswaaij-Arts, C M A

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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature von Hol, J. A., Jongmans, M. C. J., Littooij, A. S., de Krijger, R. R., Kuiper, R. P., van Harssel, J. J. T., Mensenkamp, A., Simons, M., Tytgat, G. A. M., van den Heuvel-Eibrink, M. M., van Grotel, M.

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A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia von van Engelen, N., Roest, M., van Dijk, F., Sonneveld, E., Bladergroen, R., van Reijmersdal, S. V., van der Velden, V. H. J., Hoogeveen, P. G., Kors, W. A., Waanders, E., Jongmans, M. C. J., Kuiper, R. P.

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Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences von Waanders, E, Scheijen, B, Jongmans, M C J, Venselaar, H, van Reijmersdal, S V, van Dijk, A H A, Pastorczak, A, Weren, R D A, van der Schoot, C E, van de Vorst, M, Sonneveld, E, Hoogerbrugge, N, van der Velden, V H J, Gruhn, B, Hoogerbrugge, P M, van Dongen, J J M, Geurts van Kessel, A, van Leeuwen, F N, Kuiper, R P

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Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma von van Engelen, N., van Dijk, F., Waanders, E., Buijs, A., Vermeulen, M. A., Loeffen, J. L. C., Kuiper, R. P., Jongmans, M. C. J.

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome von Jongmans, MCJ, Van Ravenswaaij-Arts, CMA, Pitteloud, N, Ogata, T, Sato, N, Claahsen-van der Grinten, HL, Van Der Donk, K, Seminara, S, Bergman, JEH, Brunner, HG, Crowley Jr, WF, Hoefsloot, LH

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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline von van Os, N.J.H., Roeleveld, N., Weemaes, C.M.R., Jongmans, M.C.J., Janssens, G.O., Taylor, A.M.R., Hoogerbrugge, N., Willemsen, M.A.A.P.

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Independent development of lymphoid and histiocytic malignancies from a shared early precursor von Waanders, E, Hebeda, K M, Kamping, E J, Groenen, P J T A, Simons, A, Hoischen, A, Jongmans, M C J, Hoogerbrugge, P M, van Leeuwen, F N, Kuiper, R P, te Loo, D M W M

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Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer von Bon, S.B.B., Wouters, R.H.P., Bakhuizen, J.J., van den Heuvel-Eibrink, M.M., Maurice-Stam, H., Jongmans, M.C.J., Grootenhuis, M.A.

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Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition von Diets, I J, Nagtegaal, I D, Loeffen, J, de Blaauw, I, Waanders, E, Hoogerbrugge, N, Jongmans, M C J

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene von Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

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Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome von Jongmans, M C J, Kuiper, R P, Carmichael, C L, Wilkins, E J, Dors, N, Carmagnac, A, Schouten-van Meeteren, A Y N, Li, X, Stankovic, M, Kamping, E, Bengtsson, H, Schoenmakers, E F P M, van Kessel, A Geurts, Hoogerbrugge, P M, Hahn, C N, Brons, P P, Scott, H S, Hoogerbrugge, N

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Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome von Jonker, L.A., Lebbink, C.A., Jongmans, M.C.J., Nievelstein, R.A.J., Merks, J.H.M., Nieveen van Dijkum, E.J.M., Links, T.P., Hoogerbrugge, N., van Trotsenburg, A.S.P., van Santen, H.M.

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq von Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.

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Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with h... von van der Sluijs, P.J., Vergano, S.A., Roeder, E.R., Jongmans, M.C.J., Santen, G.W.E.

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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals von Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L

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Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition von Diets, I J, Nagtegaal, I D, Loeffen, J, de Blaauw, I, Waanders, E, Hoogerbrugge, N, Jongmans, M C J

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Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome von Jonker, L A, Lebbink, C A, Jongmans, M C J, Nievelstein, R A J, Merks, J H M, Nieveen van Dijkum, E J M, Links, T P, Hoogerbrugge, N, van Trotsenburg, A S P, van Santen, H M

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq von Koster, R, Brandao, R. D, Tserpelis, D, van Roozendaal, C. E. P, van Oosterhoud, C. N, Claes, Kathleen, Paulussen, A. D. C, Sinnema, M, Vreeburg, M, van der Schoot, V, Stumpel, C. T. R. M, Broen, M. P. G, Spruijt, L, Jongmans, M. C. J, Oberstein, S. A. J. Lesnik, Plomp, A. S, Misra-Isrie, M, Duijkers, F. A, Louwers, M. J, Szklarczyk, R, Derks, K. W. J, Brunner, H. G, van den Wijngaard, A, van Geel, M, Blok, M. J

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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals: Emerging Microdeletion and Microdu... von BIJLSMA, E. K, GIJSBERS, A. C. J, LOEYS, B, MENTEN, B, OOSTRA, A, VERHELST, H, AMOR, D. J, BRUNO, D. L, VAN ESSEN, A. J, HORDIJK, R, SIKKEMA-RADDATZ, B, VERBRUGGEN, K. T, SCHUURS-HOEIJMAKERS, J. H. M, JONGMANS, M. C. J, PFUNDT, R, REESER, H. M, BREUNING, M. H, RUIVENKAMP, C. A. L, VAN HAERINGEN, A, FRANSEN VAN DE PUTTE, D. E, ANDERLID, B.-M, LUNDIN, J, LAPUNZINA, P, PEREZ JURADO, L. A, DELLE CHIAIE, B

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