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Publicaties 2017

Publication list Clinical Genetics 2017


Article/Letter to the editor

Acuna-Hidalgo, R. (external organisation), Deriziotis, P. (external organisation), Steehouwer, M. (external organisation), Gilissen, C. (external organisation), Graham, S.A. (external organisation), Dam, S. van (external organisation), Hoover-Fong, J. (external organisation), Telegrafi, A.B. (external organisation), Destree, A. (external organisation), Smigiel, R. (external organisation), Lambie, L.A. (external organisation), Kayserili, H. (external organisation), Altunoglu, U. (external organisation), Lapi, E. (external organisation), Uzielli, M.L. (external organisation), Aracena, M. (external organisation), Nur, B.G. (external organisation), Mihci, E. (external organisation), Moreira, L.M.A. (external organisation), Ferreira, V.B. (external organisation), Horovitz, D.D.G. (external organisation), Rocha, K.M. da (external organisation), Jezela-Stanek, A. (external organisation), Brooks, A.S. (clinical genetics), Reutter, H. (external organisation), Cohen, J.S. (external organisation), Fatemi, A. (external organisation), Smitka, M. (external organisation), Grebe, T.A. (external organisation), Donato, N. Di (external organisation), Deshpande, C. (external organisation), Vandersteen, A. (external organisation), Lourenco, C. (external organisation), Dufke, A. (external organisation), Rossier, E. (external organisation), Andre, G. (external organisation), Baumer, A. (external organisation), Spencer, C. (external organisation), McGaughran, J. (external organisation), Franke, L. (external organisation), Veltman, J.A. (external organisation), Vries, B.B.A. de (external organisation), Schinzel, A. (external organisation), Fisher, S. (external organisation), Hoischen, A. (external organisation) & Bon, B.W. van (external organisation) (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics (online), 13 (3):e1006683. doi: 10.1371/journal.pgen.1006683
- EMC OR-01
- Academic (Article/Letter to the editor)

Altmuller, F. (external organisation), Lissewski, C. (external organisation), Bertola, D. (external organisation), Flex, E. (external organisation), Stark, Z. (external organisation), Spranger, S. (external organisation), Baynam, G. (external organisation), Buscarilli, M. (external organisation), Dyack, S. (external organisation), Gillis, J. (external organisation), Yntema, H. (external organisation), Pantaleoni, F. (external organisation), Loon, R.L.E. van (clinical genetics), MacKay, S. (external organisation), Mina, K. (external organisation), Schanze, I. (external organisation), Tan, T. (external organisation), Walsh, M. (external organisation), White, S.M. (external organisation), Niewisch, M.R. (external organisation), Garcia-Minaur, S. (external organisation), Plaza, D. (external organisation), Ahmadian, M.R. (external organisation), Cave, H. (external organisation), Tartaglia, M. (external organisation) & Zenker, M. (external organisation) (2017). Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, 25 (7), 823-831. doi: 10.1038/ejhg.2017.65
- EMC OR-01
- Academic (Article/Letter to the editor)

Baas, M. (plastic and reconstructive surgery), Stubbs, A.P. (bioinformatics), Zessen, D.B.H. van (bioinformatics), Galjaard, R.J.H. (clinical genetics), Spek, P.J. van der (bioinformatics), Hovius, S.E.R. (plastic and reconstructive surgery) & Nieuwenhoven, C.A. van (plastic and reconstructive surgery) (2017). Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification. Journal of Hand Surgery-American Volume, 42 (7), 533-545. doi: 10.1016/jOsa.2017.03.043
- EMC OR-01
- Academic (Article/Letter to the editor)

Baas, M. (plastic and reconstructive surgery), Potuijt, J.W.P. (external organisation), Hovius, S.E.R. (plastic and reconstructive surgery), Hoogeboom, A.J.M. (clinical genetics), Galjaard, R.J.H. (clinical genetics) & Nieuwenhoven, C.A. van (plastic and reconstructive surgery) (2017). Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations? American Journal of Medical Genetics Part A, 173 (11), 2898-2905. doi: 10.1002/ajmg.a.38398
- EMC OR-01
- Academic (Article/Letter to the editor)

Boer, J.M. (pediatrics-other), Steeghs, E.M.P. (pediatrics-other), Marchante, J.R.M. (pediatrics-other), Boeree, A. (pediatrics-other), Beaudoin, JJ (pediatrics-other), Beverloo, H.B. (clinical genetics), Kuiper, R.P. (external organisation), Escherich, G. (external organisation), Velden, V.H.J. van der (immunology), Schoot, C.E. van der (external organisation), Groot-Kruseman, H. de (external organisation), Pieters, R. (external organisation) & Boer, M.L. den (pediatrics-hematology) (2017). Tyrosine kinase fusion genes in pediatric BCR-ABL1-like acute lymphoblastic leukemia. Oncotarget, 8 (3), 4618-4628. doi: 10.18632/oncotarget.13492
- EMC MM-02-54-03, EMC OR-01
- Academic (Article/Letter to the editor)

Bongaarts, A. (external organisation), Giannikou, K. (external organisation), Reinten, R.J. (external organisation), Anink, J. (external organisation), Mills, J.D. (external organisation), Jansen, F.E. (external organisation), Spliet, W. (external organisation), Dunnen, W. den (external organisation), Coras, R. (external organisation), Blumcke, I. (external organisation), Paulus, W. (external organisation), Scholl, T. (external organisation), Feucht, M. (external organisation), Kotulska, K. (external organisation), Jozwiak, S. (external organisation), Buccoliero, A.M. (external organisation), Caporalini, C. (external organisation), Giordano, F. (external organisation), Genitori, L. (external organisation), Soylemezoglu, F. (external organisation), Pimentel, J. (external organisation), Nellist, M. (clinical genetics), Meeteren, A. Schouten-van (external organisation), Nag, A. (external organisation), Muhlebner, A. (external organisation), Kwiatkowski, D.J. (external organisation) & Aronica, E. (external organisation) (2017). Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. Oncotarget, 8 (56), 95516-95529. doi: 10.18632/oncotarget.20764
- EMC OR-01
- Academic (Article/Letter to the editor)

Bonifati, V. (clinical genetics) (2017). Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes. Movement Disorders Clinical Practice, 4 (1), 36-38. doi: 10.1002/mdc3.12438
- EMC OR-01
- Academic (Article/Letter to the editor)

Bouwkamp, C.G. (clinical genetics + Psychiatry), Kievit, J.A. (clinical genetics), Olgiati, S. (clinical genetics), Breedveld, G.J. (clinical genetics), Coesmans, M.P.H. (Psychiatry), Bonifati, V. (clinical genetics) & Kushner, S.A. (Psychiatry) (2017). A Balanced Translocation Disrupting BCL2L10 and PNLDC1 Segregates With Affective Psychosis. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 174 (3), 214-219. doi: 10.1002/ajmg.b.32465
- EMC OR-01
- Academic (Article/Letter to the editor)

Bouwkamp, C.G. (clinical genetics), Kievit, A. (external organisation), Markx, S (Psychiatry), Friedman, J. (external organisation), Zutven, L. van (clinical gentics), Minkelen, R. van (clinical genetics), Vrijenhoek, T. (external organisation), Xu, B. (external organisation), Nieuwegiessen, I. Sterrenburg-van (external organisation), Veltman, J.A. (external organisation), Bonifati, V. (clinical genetics) & Kushner, S.A. (Psychiatry) (2017). Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry. American Journal of Psychiatry, 174 (11), 1036-1050. doi: 10.1176/appi.ajp.2017.16080946
- EMC OR-01
- Academic (Article/Letter to the editor)

Brady, A. (external organisation), Demirdas, S (clinical genetics), Fournel-Gigleux, S. (external organisation), Ghali, N. (external organisation), Giunta, C. (external organisation), Kapferer-Seebacher, I. (external organisation), Kosho, T. (external organisation), Mendoza-Londono, R. (external organisation), Pope, M.F. (external organisation), Rohrbach, M. (external organisation), Damme, T. Van (external organisation), Vandersteen, A. (external organisation), Mourik, C. van (external organisation), Voermans, N. (external organisation), Zschocke, J. (external organisation) & Malfait, F. (external organisation) (2017). The Ehlers-Danlos Syndromes, Rare Types. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 175 (1), 70-115. doi: 10.1002/ajmg.c.31550
- EMC OR-01
- Academic (Article/Letter to the editor)
Butler, C.R. (external organisation), Hynds, R.E. (external organisation), Crowley, C. (external organisation), Gowers, K.H.C. (external organisation), Partington, L. (external organisation), Hamilton, N.J. (external organisation), Carvalho, C. (external organisation), Plate, M. (external organisation), Samuel, E.R. (external organisation), Burns, AJ (clinical genetics), Urbani, L. (external organisation), Birchall, M.A. (external organisation), Lowdell, M.W. (external organisation), Coppi, P. De (external organisation) & Janes, S. (external organisation) (2017). Vacuum-assisted decellularization: an accelerated protocol to generate tissue-engineered human tracheal scaffolds. Biomaterials, 124, 95-105. doi: 10.1016/j.biomateriais.2017.02.001
- EMC OR-01
- Academic (Article/Letter to the editor)

Castro, H. (external organisation), Kul, E. (external organisation), Buijsen, R.A.M. (clinical genetics), Severijnen, E.A.W.F.M. (clinical genetics), Willemsen, R. (clinical genetics), Hukema, R.K. (clinical genetics), Stork, O. (external organisation) & Santos, M. (external organisation) (2017). Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. Human Molecular Genetics, 26 (11), 2133-2145. doi: 10.1093/hmg/ddx108
- EMC OR-01
- Academic (Article/Letter to the editor)

Cooper, J.E. (external organisation), Natarajan, D. (external organisation), McCann, C.J. (external organisation), Choudhury, S. (external organisation), Godwin, H. (external organisation), Burns, AJ (clinical genetics) & Thapar, N. (external organisation) (2017). In vivo transplantation of fetal human gut-derived enteric neural crest cells. Neurogastroenterology and Motility, 29 (1):UNSP e12900. doi: 10.1111/nmo.12900
- EMC OR-01
- Academic (Article/Letter to the editor)

Demirdas, S (clinical genetics), Dulfer, E. (external organisation), Robert, L. (external organisation), Kempers, M. (external organisation), Beek, D.. van de (external organisation), Micha, D. (external organisation), Engelen, B. van (external organisation), Hamel, B. (external organisation), Schalkwijk, J. (external organisation), Loeys, B. (external organisation), Maugeri, A. (external organisation) & Voermans, N. (external organisation) (2017). Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clinical Genetics, 91 (3), 411-425. doi: 10.1111/cge.12853
- EMC OR-01
- Academic (Article/Letter to the editor)


Dijk, F. van (external organisation), Mancini, G.M.S. (clinical genetics), Maugeri, A. (external organisation) & Cobben, J. (external organisation) (2017). Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis. European Journal of Medical Genetics, 60 (10), 536-540. doi: 10.1016/j.ejmg.2017.07.011
- EMC OR-01
- Academic (Article/Letter to the editor)


Dommering, C. (external organisation), Henneman, L. (external organisation), Hout, A.H. van der (external organisation), Jonker, M.A. (EMC overig), Tops, C. (external organisation), Ouweland, A.M.W. van den (clinical genetics), Luijt, R.B. van der (external organisation), Mensenkamp, A. (external organisation), Hogervorst, F. (external organisation), Redeker, E. (external organisation), Die-Smulders, C.E.M. de (external organisation), Moll, A. (external organisation) & Meijers-Heijboer, H. (external organisation) (2017). Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. Familial Cancer, 16 (2), 271-277. doi: 10.1007/s10689-016-9943-z
- EMC OR-01
- Academic (Article/Letter to the editor)

Espinosa-Medina, I. (external organisation), Jevans, B. (external organisation), Boismoreau, F. (external organisation), Chettouh, Z. (external organisation), Enomoto, H. (external organisation), Muller, T. (internal medicine), Birchmeier, C. (external organisation), Burns, AJ (clinical genetics) & Brunet, J.F. (external organisation) (2017). Dual origin of enteric neurons in vagal Schwann cell precursors and the sympathetic neural crest. Proceedings of the National Academy of Sciences of the United States of Ame, 114 (45), 11980-11985. doi: 10.1073/pnas.1710308114
- EMC OR-01
- Academic (Article/Letter to the editor)

Farach, L.S. (external organisation), Gibson, W.T. (external organisation), Sparagana, S. (external organisation), Nellist, M. (clinical genetics), Stumpel, C. (external organisation), Hietala, M. (external organisation), Friedman, E. (external organisation), Pearson, D.A. (external organisation), Creighton, S.P. (external organisation), Wagemans, A. (external organisation), Segel, R. (external organisation), Ben-Shalom, E. (external organisation), Au, K.S. (external organisation) & Northrup, H. (external organisation) (2017). TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. American Journal of Medical Genetics Part A, 173 (3), 771-775. doi: 10.1002/ajmg.a.38083
- EMC OR-01
- Academic (Article/Letter to the editor)

Geurts-Giele, W.R.R. (pathology), Verschuer, V.M.T. van (surgery), Deurzen, C.H.M. van (pathology), Diest, P.J. van (external organisation), Pedrosa, R.M. (pathology), Collee, J.M. (clinical genetics), Koppert, L.B. (surgery), Seynaeve, C.M. (medical oncology) & Dinjens, W.N.M. (pathology) (2017). Molecular determination of the clonal relationships between multiple tumors in BRCA1/2-associated breast and/or ovarian cancer patients is clinically relevant. Modern Pathology, 30 (1), 15-25. doi: 10.1038/modpathol.2016.145
- EMC OR-01
- Academic (Article/Letter to the editor)

Gillis, E. (external organisation), Kumar, A.A. (external organisation), Luyckx, I. (external organisation), Preuss, C. (external organisation), Cannaerts, E. (external organisation), Beek, G. van de (external organisation), Wieschendorf, B. (external organisation), Alaerts, M. (external organisation), Bolar, N. (external organisation), Vandeweyer, G. (external organisation), Meester, J. (external organisation), Wunnemann, F. (external organisation), Gould, R.A. (external organisation), Zhurayev, R. (external organisation), Zerbino, D. (external organisation), Mohamed, S. (external organisation), Mital, S. (external organisation), Mertens, L. (external organisation), Bjorck, H.M. (external organisation), Franco-Cereceda, A. (external organisation), McCallion, A. (external organisation), Laer, L. Van (external organisation), Verhagen, J.M.A. (clinical genetics), Laar, I.M.B.H. van de (clinical genetics), Wessels, M.W. (clinical genetics), Messas, E. (external organisation), Goudot, G. (external organisation), Nemcikova, M. (external organisation), Krebsova, A. (external organisation), Kempers, M. (external organisation), Salemink, S. (external organisation), Duijnhouwer, T. (external organisation), Jeunemaitre, X. (external organisation), Albuisson, J. (external organisation), Eriksson, P. (external organisation), Andelfinger, G. (external organisation), Dietz, H. (external organisation), Verstraeten, A. (external organisation) & Loeys, B. (external organisation) (2017). Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Frontiers in Physiology, 8:400. doi: 10.3389/fphys.2017.00400
- EMC OR-01
- Academic (Article/Letter to the editor)

Goos, J.A.C. (EMC overig), Swagemakers, S.M.A. (bioinformatics), Twigg, S. (external organisation), Dooren, M.F. van (clinical genetics), Hoogeboom, A.J.M. (clinical genetics), Beetz, C. (external organisation), Gunther, S. (external organisation), Magielsen, F.J. (clinical genetics), Ockeloen, C.W. (external organisation), Ramos-Arroyo, M.A. (external organisation), Pfundt, R. (external organisation), Yntema, H. (external organisation), Spek, P.J. van der (bioinformatics), Stanier, P. (external organisation), Wieczorek, D. (external organisation), Wilkie, A.O.M. (external organisation), Ouweland, A.M.W. van den (clinical genetics), Mathijssen, I.M.J. (external organisation) & Hurst, J. (external organisation) (2017). Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. European Journal of Human Genetics, 25 (10), 1126-1133. doi: 10.1038/ejhg.2017.107
- EMC OR-01
- Academic (Article/Letter to the editor)

Govaerts, L.C.P. (clinical genetics), Srebniak, M.I. (clinical genetics), Diderich, K.E.M. (clinical genetics), Joosten, A.M.S. (clinical genetics), Riedijk, S.R. (clinical genetics), Knapen, M.F.C.M. (gynaecology/obstetrics), Go, A.T.J.I. (gynaecology/obstetrics), Papatsonis, D. (external organisation), Graaf, K. de (external organisation), Toolenaar, T. (external organisation), Steen, S.L. van der (clinical genetics), Huijbregts, G.C.M. (clinical genetics), Knijnenburg, J. (clinical genetics), Vries, F.A.T. de (clinical genetics), Opstal, D. van (clinical genetics) & Galjaard, R.J.H. (clinical genetics) (2017). Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases. Prenatal Diagnosis, 37 (1), 73-80. doi: 10.1002/pd.4979
- EMC OR-01
- Academic (Article/Letter to the editor)

Goverde, A. (gastroenterology & hepatology + clinical genetics), Korsse, S.E. (gastroenterology & hepatology), Wagner, A. (clinical genetics), Leerdam, M.E. van (gastroenterology & hepatology), Krak, N.C. (radiology), Stoker, J. (external organisation), Buuren, H.R. van (gastroenterology & hepatology), Hofstra, R.M.W. (clinical genetics), Bruno, M.J. (gastroenterology & hepatology), Dewint, P. (external organisation), Dekker, E. (external organisation) & Spaander, V.M.C.W. (gastroenterology & hepatology) (2017). Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy. Journal of Clinical Gastroenterology, 51 (4), E27-E33. doi: 10.1097/mcg.0000000000000592
- EMC OR-01
- Academic (Article/Letter to the editor)
Graaf, G. de (external organisation), Engelen, J.J.M. (external organisation), Gijsbers, A.C.J. (external organisation), Hochstenbach, R. (external organisation), Hoffer, M. (external organisation), Kooper, A.J.A. (external organisation), Sikkema-Raddatz, B. (external organisation), Srebniak, M.I. (clinical genetics), Kevie-Kersemaekers, A.M.F. van der (external organisation), Zutven, L.J.C.M. van (clinical genetics) & Voorhoeve, E. (external organisation) (2017). Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands. Journal of Intellectual Disability Research, 61 (5), 461-470. doi: 10.1111/jir.12371
- EMC OR-01
- Academic (Article/Letter to the editor)


Guedes, L. (external organisation), Reimao, S. (external organisation), Paulino, P. (external organisation), Nunes, R.G. (external organisation), Bouca-Machado, R. (external organisation), Abreu, D. (external organisation), Goncalves, N. (external organisation), Soares, T. (external organisation), Fabbri, M. (external organisation), Godinho, C. (external organisation), Lobo, P. (external organisation), Neutel, D. (external organisation), Quadri, M. (clinical genetics), Coelho, M. (external organisation), Rosa, M. (external organisation), Campos, J. (external organisation), Outeiro, T. (external organisation), Sampaio, C. (external organisation), Bonifati, V. (clinical genetics) & Ferreira, J. (external organisation) (2017). Neuromelanin Magnetic Resonance Imaging of the Substantia Nigra in LRRK2-Related Parkinson's Disease. Movement Disorders, 32 (9), 1331-1333. doi: 10.1002/mds.27083
- EMC OR-01
- Academic (Article/Letter to the editor)

Gui, H.S. (external organisation), Schriemer, D. (external organisation), Cheng, W.C. (clinical genetics), Chauhan, R.K. (clinical genetics), Antinolo, G. (external organisation), Berrios, C. (external organisation), Bleda, M. (external organisation), Brooks, A.S. (clinical genetics), Brouwer, R.W.W. (cell biology), Burns, AJ (clinical genetics), Cherny, S.S. (external organisation), Dopazo, J. (external organisation), Eggen, B.J.L. (external organisation), Griseri, P. (external organisation), Jalloh, B. (external organisation), Le, T.L. (external organisation), Lui, V.C.H. (external organisation), Luzon-Toro, B. (external organisation), Matera, I. (external organisation), Ngan, E.S.W. (external organisation), Pelet, A. (external organisation), Ruiz-Ferrer, M. (external organisation), Sham, P.C. (external organisation), Shepherd, I. (external organisation), So, M.T. (external organisation), Sribudiani, Y. (clinical genetics), Tang, C.S.M. (external organisation), Hout - van Vroonhoven, M.C.G.N. van den (cell biology), Linde, H.C. van der (clinical genetics), Ham, T.J. van (clinical genetics), IJcken, W.F.J. van (cell biology), Verheij, J. (external organisation), Amiel, J. (external organisation), Borrego, S. (external organisation), Ceccherini, I. (external organisation), Chakravarti, A. (external organisation), Lyonnet, S. (external organisation), Tam, P. (external organisation), Garcia-Barcelo, M. (external organisation) & Hofstra, R.M.W. (clinical genetics) (2017). Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology, 18:48. doi: 10.1186/s13059-017-1174-6
- EMC OR-01
- Academic (Article/Letter to the editor)

Haer-Wigman, L. (external organisation), Zelst-Stams, W.A.G. van (external organisation), Pfundt, R. (external organisation), Born, L.I. van den (external organisation), Klaver, C.C.W. (ophthalmology + epidemiology), Verheij, J. (external organisation), Hoyng, C. (external organisation), Breuning, M.H. (external organisation), Boon, C. (external organisation), Kievit, J.A. (clinical genetics), Verhoeven, V.J.M. (clinical genetics + ophthalmology), Pott, J. (external organisation), Sallevelt, S. (external organisation), Hagen, J.M. van (external organisation), Plomp, A.S. (external organisation), Kroes, H. (external organisation), Lelieveld, S. (external organisation), Hehir-Kwa, J. (external organisation), Castelein, S. (external organisation), Nelen, M. (external organisation), Scheffer, H. (external organisation), Lugtenberg, D. (external organisation), Cremers, F.P.M. (external organisation), Hoefsloot, E.H. (clinical genetics) & Yntema, H. (external organisation) (2017). Diagnostic exome sequencing in 266 Dutch patients with visual impairment. European Journal of Human Genetics, 25 (5), 591-599. doi: 10.1038/ejhg.2017.9
- EMC OR-01
- Academic (Article/Letter to the editor)

Hagen, I.M. van (cardiology), Linde, D. van der (cardiology), Laar, I.M.B.H. van de (clinical genetics), Mosquera, L.M. (cardiology), Backer, J De (cardiology) & Roos-Hesselink, J.W. (cardiology) (2017). Pregnancy in Women With SMAD3 Mutation. Journal of the American College of Cardiology, 69 (10), 1356-1358. doi: 10.1016/j.jacc.2016.12.029
- EMC OR-01
- Academic (Article/Letter to the editor)

Halim, D. (clinical genetics), Wilson, M.P. (external organisation), Oliver, D. (external organisation), Brosens, E. (clinical genetics), Verheij, J. (external organisation), Han, Y. (external organisation), Nanda, V. (external organisation), Lyu, Q. (external organisation), Doukas, M. (pathology), Stoop, H. (pathology), Brouwer, R.W.W. (cell biology), IJcken, W.F.J. van (cell biology), Slivano, O.J. (external organisation), Burns, AJ (clinical genetics), Christie, C.K. (external organisation), Bentley, K.L.D. (external organisation), Brooks, A.S. (clinical genetics), Tibboel, D. (pediatric surgery), Xu, S.W. (external organisation), Jin, Z.G. (external organisation), Djuwantono, T. (external organisation), Yan, W. (external organisation), Alves, M.M. (clinical genetics), Hofstra, R.M.W. (clinical genetics) & Miano, J.M. (external organisation) (2017). Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proceedings of the National Academy of Sciences of the United States of Ame, 114 (13), E2739-E2747. doi: 10.1073/pnas.1620507114
- EMC OR-01
- Academic (Article/Letter to the editor)

Halim, D. (clinical genetics), Brosens, E. (clinical genetics), Muller, F. (external organisation), Wangler, M.F. (external organisation), Beaudet, A.L. (external organisation), Lupski, J. (external organisation), Akdemir, Z.H.C. (external organisation), Doukas, M. (pathology), Stoop, J.A. (pathology), Graaf, B.M. de (clinical genetics), Brouwer, R.W.W. (cell biology), IJcken, W.F.J. van (cell biology), Oury, J.F. (external organisation), Rosenblatt, J. (external organisation), Burns, AJ (clinical genetics), Tibboel, D. (pediatric surgery), Hofstra, R.M.W. (clinical genetics) & Alves, M.M. (clinical genetics) (2017). Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. American Journal of Human Genetics, 101 (1), 123-129. doi: 10.1016/j.ajhg.2017.05.011
- EMC OR-01
- Academic (Article/Letter to the editor)

Hamdi, Y. (external organisation), Soucy, P. (external organisation), Kuchenbaeker, K.B. (external organisation), Pastinen, T. (external organisation), Droit, A. (external organisation), Lemacon, A. (external organisation), Adlard, J. (external organisation), Aittomaki, K. (external organisation), Andrulis, I.L. (external organisation), Arason, A. (external organisation), Arnold, N. (external organisation), Arun, B. (external organisation), Azzollini, J. (external organisation), Bane, A. (external organisation), Barjhoux, L. (external organisation), Barrowdale, D. (external organisation), Benitez, J. (external organisation), Berthet, P. (external organisation), Blok, M. (external organisation), Bobolis, K. (external organisation), Bonadona, V. (external organisation), Bonanni, B. (external organisation), Bradbury, A.R. (external organisation), Brewer, C. (external organisation), Buecher, B. (external organisation), Buys, S.S. (external organisation), Caligo, M. 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Harper, C.B. (external organisation), Mancini, G.M.S. (clinical genetics), Slegtenhorst, M. van (clinical genetics) & Cousin, M.A. (external organisation) (2017). Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. Neurobiology of Disease, 108, 298-306. doi: 10.1016/j.nbd.2017.08.021
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Hellebrekers, D.M. (external organisation), Sallevelt, S. (external organisation), Theunissen, T.E.J. (external organisation), Hendrickx, A.T.M. (external organisation), Gottschalk, R.W. (external organisation), Hoeijmakers, J. (external organisation), Habets, D.D. (external organisation), Bierau, J. (external organisation), Schoonderwoerd, G.C. (clinical genetics) & Smeets, H.J.M. (external organisation) (2017). Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. European Journal of Human Genetics, 25 (7), 886-888. doi: 10.1038/ejhg.2017.62
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Hersmus, R. (pathology), Bever, Y. van (clinical genetics), Wolffenbuttel, K.P. (urology), Biermann, K. (pathology), Cools, M. (external organisation) & Looijenga, L.H.J. (pathology) (2017). The biology of germ cell tumors in disorders of sex development. Clinical Genetics, 91 (2), 292-301. doi: 10.1111/cge.12882
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Hoch, N.C. (external organisation), Hanzlikova, H. (external organisation), Rulten, S.L. (external organisation), Tetreault, M. (external organisation), Komulainen, E. (external organisation), Ju, L. (external organisation), Hornyak, P. (external organisation), Zeng, Z.H. (external organisation), Gittens, W. (external organisation), Rey, S.A. (external organisation), Staras, K. (external organisation), Mancini, G.M.S. (clinical genetics), McKinnon, P.J. (external organisation), Wang, Z. (external organisation), Wagner, J.D. (external organisation), Yoon, G. (external organisation) & Caldecott, K.W. (external organisation) (2017). XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature, 541 (7635), 87-+. doi: 10.1038/nature20790
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Hockman, D. (external organisation), Burns, AJ (clinical genetics), Schlosser, G. (external organisation), Gates, K.P. (external organisation), Jevans, B. (external organisation), Mongera, A. (external organisation), Fisher, S. (external organisation), Unlu, G. (external organisation), Knapik, E.W. (external organisation), Kaufman, C.K. (external organisation), Mosimann, C. (external organisation), Zon, L. (external organisation), Lancman, J.J. (external organisation), Dong, P.D.S. (external organisation), Lickert, H. (external organisation), Tucker, A.S. (external organisation) & Baker, C.V.H. (external organisation) (2017). Evolution of the hypoxia-sensitive cells involved in amniote respiratory reflexes. ELIFE, 6:e21231. doi: 10.7554/eLife.21231
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Hollink, I.H.I.M. (clinical genetics), Ouweland, A.M.W. van den (external organisation), Beverloo, H.B. (external organisation), Arentsen-Peters, S. (pediatrics-hematology), Zwaan, C.M. (pediatrics-hematology) & Wagner, A. (clinical genetics) (2017). Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. Journal of Medical Genetics, 54 (12), 805-808. doi: 10.1136/jmedgenet-2017-104574
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Hoorntje, E.T. (external organisation), Bollen, I.A. (external organisation), Barge-Schaapveld, D.Q. (external organisation), Tienen, F.H. van (external organisation), Meerman, G.J. te (external organisation), Jansweijer, J.A. (external organisation), Essen, A.J. van (external organisation), Volders, P. (external organisation), Constantinescu, A.A. (cardiology), Akker, P.C. van den (external organisation), Spaendonck-Zwarts, K.Y. (external organisation), Oldenburg, R.A. (clinical genetics), Marcelis, C.L. (external organisation), Smagt, J.J. van der (external organisation), Hennekam, E.A. (external organisation), Vink, A. (pathology), Bootsma, M. (external organisation), Aten, E. (external organisation), Wilde, A. (external organisation), Wijngaard, A. van den (external organisation), Broers, J.L. (external organisation), Jongbloed, J.D. (external organisation), Velden, J. van der (external organisation), Berg, M. van den (external organisation) & Tintelen, J.P. (external organisation) (2017). Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. Circulation-cardiovascular genetics, 10 (4):UNSP e001631. doi: 10.1161/circgenetics.116.001631
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Houlleberghs, H. (external organisation), Goverde, A. (clinical genetics), Lusseveld, J. (external organisation), Dekker, M. (external organisation), Bruno, M.J. (gastroenterology & hepatology), Menko, F.H. (external organisation), Mensenkamp, A. (external organisation), Spaander, V.M.C.W. (gastroenterology & hepatology), Wagner, A. (clinical genetics), Hofstra, R.M.W. (clinical genetics) & Riele, H. te (external organisation) (2017). Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. PLoS Genetics (online), 13 (5):e1006765. doi: 10.1371/journal.pgen.1006765
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Huijmans, J.G.M. (clinical genetics), Schot, R. (clinical genetics), Klerk, J.B.C. de (pediatrics-metobolic/genetics), Williams, M. (pediatrics-metobolic/genetics), Coo, R.F.M. de (neurology), Duran, M. (external organisation), Verheijen, F.W. (clinical genetics), Slegtenhorst, M.A. van (clinical genetics) & Mancini, G.M.S. (clinical genetics) (2017). Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. American Journal of Medical Genetics Part A, 173 (6), 1601-1606. doi: 10.1002/ajmg.a.38240
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Jain, P. (external organisation), Sharma, S. (external organisation), Breedveld, G.J. (clinical genetics), Bonifati, V. (clinical genetics) & Aneja, S. (external organisation) (2017). Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia. Journal of Pediatric Neurosciences, 12 (1), 112-113. doi: 10.4103/jpn.JPN_148_16
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Jansen, S. (external organisation), Geuer, S. (external organisation), Pfundt, R. (external organisation), Brough, R. (external organisation), Ghongane, P. (external organisation), Herkert, J. (external organisation), Marco, E.J. (external organisation), Willemsen, M. (external organisation), Kleefstra, T. (external organisation), Hannibal, M. (external organisation), Shieh, J.T. (external organisation), Lynch, S. (external organisation), Flinter, F. (external organisation), Fitzpatrick, D. (external organisation), Gardham, A. (external organisation), Bernhard, B. (external organisation), Ragge, N. (external organisation), Newbury-Ecob, R. (external organisation), Bernier, R. (external organisation), Kvarnung, M. (external organisation), Magnusson, E.A.H. (external organisation), Wessels, M.W. (clinical genetics), Slegtenhorst, M.A. van (clinical genetics), Monaghan, K.G. (external organisation), Vries, P. de (external organisation), Veltman, J.A. (external organisation), Lord, C. (external organisation), Vissers, L. (external organisation) & Vries, B.B.A. de (external organisation) (2017). De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. American Journal of Human Genetics, 100 (4), 650-658. doi: 10.1016/j.ajhg.2017.02.005
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Kauer, F. (cardiology), Dalen, B.M. van (cardiology), Michels, M. (cardiology), Schinkel, A.F.L. (cardiology), Vletter, W.B. (cardiology), Slegtenhorst, M.A. van (clinical genetics), Soliman, O.I.I. (cardiology) & Geleijnse, M.L. (cardiology) (2017). Delayed and decreased LV untwist and unstrain rate in mutation carriers for hypertrophic cardiomyopathy. European Heart Journal-Cardiovascular Imaging, 18 (4), 383-389. doi: 10.1093/ehjci/jew213
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Kluzek, K. (external organisation), Srebniak, M.I. (clinical genetics), Majer, W. (external organisation), Ida, A. (external organisation), Milecki, T. (external organisation), Huminska, K. (external organisation), Helm, R.M. van der (clinical genetics), Silesian, A. (external organisation), Wrzesinski, T.M. (external organisation), Wojciechowicz, J. (external organisation), Beverloo, H.B. (clinical genetics), Kwias, Z. (external organisation), Bluyssen, H.A.R. (external organisation) & Wesoly, J. (external organisation) (2017). Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA. Oncotarget, 8 (17), 28558-28574. doi: 10.18632/oncotarget.15331
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Knijnenburg, J. (clinical genetics), Uytdewilligen, M.E.W. (external organisation), Hassel, D. van (external organisation), Oostenbrink, R. (pediatrics), Eussen, B.H.J. (external organisation), Klein, A. (clinical genetics), Brooks, A.S. (clinical genetics) & Zutven, L. van (clinical genetics) (2017). Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. European Journal of Medical Genetics, 60 (9), 445-450. doi: 10.1016/j.ejmg.2017.06.003
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Kock, L. de (external organisation), Rivera, B. (external organisation), Revil, T. (external organisation), Thorner, P. (external organisation), Goudie, C. (external organisation), Soglio, D.B.D. (external organisation), Choong, C. (external organisation), Priest, J.R. (external organisation), Diest, P.J. van (external organisation), Tanboon, J. (external organisation), Wagner, A. (clinical genetics), Ragoussis, J. (external organisation), Choong, P.F.M. (external organisation) & Foulkes, W.D. (external organisation) (2017). Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. British Journal of Cancer, 116 (12), 1621-1626. doi: 10.1038/bjc.2017.147
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Konings, I.C.A.W. (gastroenterology & hepatology), Harinck, F. (gastroenterology & hepatology), Kuenen, M. (external organisation), Sidharta, G. (external organisation), Kieffer, J. (external organisation), Aalfs, C.M. (external organisation), Poley, J.W. (gastroenterology & hepatology), Smets, E.M.A. (external organisation), Wagner, A. (clinical genetics), Rens, A. van (external organisation), Vleggaar, F. (external organisation), Ausems, M. (external organisation), Fockens, P. (external organisation), Hooft, J. van (external organisation), Bruno, M.J. (gastroenterology & hepatology) & Bleiker, E. (external organisation) (2017). Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance. Familial Cancer, 16 (1), 143-151. doi: 10.1007/s10689-016-9930-4
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Konings, I.C.A.W. (gastroenterology & hepatology), Harinck, F. (gastroenterology & hepatology), Poley, J.W. (gastroenterology & hepatology), Aalfs, C.M. (external organisation), Rens, A. van (external organisation), Krak, N.C. (radiology), Wagner, A. (clinical genetics), Nio, C. (external organisation), Sijmons, R. (external organisation), Dullemen, H. van (external organisation), Vleggaar, F. (external organisation), Ausems, M. (external organisation), Fockens, P. (external organisation), Hooft, J. van (external organisation) & Bruno, M.J. (gastroenterology & hepatology) (2017). Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer. Pancreas, 46 (1), 28-34. doi: 10.1097/mpa.0000000000000725
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Lange, I.M. de (external organisation), Rump, P. (external organisation), Neuteboom, R.F. (neurology), Augustijn, P.B. (external organisation), Hodges, K. (external organisation), Kistemaker, A.I. (external organisation), Brouwer, O.F. (external organisation), Mancini, G.M.S. (clinical genetics), Newman, H.A. (external organisation), Vos, Y. (external organisation), Helbig, K.L. (external organisation), Peeters-Scholte, C. (external organisation), Kriek, M. (external organisation), Knoers, N. (external organisation), Lindhout, D. (external organisation), Koeleman, B.P.C. (external organisation), Kempen, M. van (external organisation) & Brilstra, E. (external organisation) (2017). Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics, 18 (3), 147-153. doi: 10.1007/s10048-017-0517-5
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Lehman, A. (external organisation), Thouta, S. (external organisation), Mancini, G.M.S. (clinical genetics), Naidu, S. (external organisation), Slegtenhorst, M.A. van (clinical genetics), McWalter, K. (external organisation), Person, R. (external organisation), Mwenifumbo, J. (external organisation), Salvarinova, R. (external organisation), Guella, I. (external organisation), McKenzie, M.B. (external organisation), Datta, A. (external organisation), Connolly, M.B. (external organisation), Kalkhoran, S.M. (external organisation), Poburko, D. (external organisation), Friedman, J.M. (external organisation), Farrer, M.J. (external organisation), Demos, M. (external organisation), Desai, S. (external organisation) & Claydon, T. (external organisation) (2017). Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. American Journal of Human Genetics, 101 (1), 65-74. doi: 10.1016/j.ajhg.2017.05.016
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Linde, I.H.M. van der (external organisation), Hiemstra, Y.L. (external organisation), Bokenkamp, R. (external organisation), Mil, A.M. van (EMC overig), Breuning, M.H. (external organisation), Ruivenkamp, C. (external organisation), Broeke, S. ten (external organisation), Veldkamp, R.F. (external organisation), Waning, J.I. van (clinical genetics), Slegtenhorst, M.A. van (clinical genetics), Spaendonck-Zwarts, K.Y. (external organisation), Deprez, R. (external organisation), Herkert, J. (external organisation), Boven, L.A. (immunology), Zwaag, P. van der (external organisation), Jongbloed, J. (external organisation), Bootsma, M. (external organisation) & Barge-Schaapveld, D. (external organisation) (2017). A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. Netherlands Heart Journal, 25 (12), 675-681. doi: 10.1007/s12471-017-1037-5
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Liu, J. (epidemiology), Klinken, J. van (external organisation), Semiz, S. (external organisation), Dijk, K. van (external organisation), Verhoeven, A. (internal medicine), Hankemeier, T. (epidemiology), Harms, A. (external organisation), Sijbrands, E.J.G. (internal medicine), Sheehan, N.A. (external organisation), Duijn, C.M. van (epidemiology) & Demirkan, A. (clinical genetics) (2017). A Mendelian Randomization Study of Metabolite Profiles, Fasting Glucose, and Type 2 Diabetes. Diabetes, 66 (11), 2915-2926. doi: 10.2337/db17-0199
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Luijtgaarden, K.M. van de (surgery), Rouwet, E.V. (surgery), Hoeks, S.E. (anesthesiology), Stolker, R.J. (anesthesiology), Verhagen, H.J.M. (surgery) & Majoor-Krakauer, D.F. (clinical genetics) (2017). Risk of abdominal aortic aneurysm (AAA) among male and female relatives of AAA patients. Vascular Medicine, 22 (2), 112-118. doi: 10.1177/1358863x16686409
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Mandemakers, W. (clinical genetics), Quadri, M. (clinical genetics), Stamelou, M. (clinical genetics) & Bonifati, V. (clinical genetics) (2017). TMEM230: How Does It Fit in the Etiology and Pathogenesis of Parkinson's Disease? Movement Disorders, 32 (8), 1159-1162. doi: 10.1002/mds.27061
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Manousaki, D. (external organisation), Dudding, T. (external organisation), Haworth, S. (external organisation), Hsu, Y. (external organisation), Liu, C. (external organisation), Medina-Gomez, C. (external organisation), Voortman, R.G. (Generation R), Velde, N. van der (surgery), Melhus, H. (external organisation), Robinson-Cohen, C. (external organisation), Cousminer, D. (external organisation), Nethander, M. (external organisation), Vandenput, L. (external organisation), Noordam, R. (external organisation), Forgetta, V. (external organisation), Greenwood, C. (external organisation), Biggs, M.L. (external organisation), Psaty, B.M. (external organisation), Rotter, J. (external organisation), Zemel, B. (external organisation), Mitchell, J.A. (external organisation), Taylor, B. (external organisation), Lorentzon, M. (external organisation), Karlsson, M. (external organisation), Jaddoe, V.W.V.K. (Generation R + epidemiology), Tiemeier, H. (pediatric psychiatry), Campos-Obando, N. (external organisation), Franco, O.H. (epidemiology), Utterlinden, A.G. (external organisation), Broer, L. (internal medicine), Schoor, N.M. (external organisation), Ham, A. van der (external organisation), Ikram, M.A. (epidemiology), Karasik, D. (external organisation), Mutsert, R. de (external organisation), Rosendaal, F.R. (external organisation), Heijer, M. den (clinical genetics), Wang, T.J. (external organisation), Lind, L. (external organisation), Orwoll, E. (external organisation), Mook-Kanamori, D.O. (Generation R), Michaelsson, K. (external organisation), Kestenbaum, B. (external organisation), Ohlsson, C. (external organisation), Mellstrom, D. (external organisation), Groot, L. de (clinical microbiology), Grant, S.F.A. (external organisation), Kiel, D. (external organisation), Zillikens, M.C. (epidemiology), Rivadeneira, F. (radiology), Sawcer, S. (external organisation), Timpson, N. (external organisation) & Richards, J. (external organisation) (2017). Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. American Journal of Human Genetics, 101 (2), 227-238. doi: 10.1016/j.ajhg.2017.06.014
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Mateo, F. (external organisation), Arenas, E.J. (external organisation), Aguilar, H. (external organisation), Serra-Musach, J. (external organisation), Garibay, G. (external organisation), Boni, J. (external organisation), Maicas, M. (external organisation), Du, S. (external organisation), Iorio, F. (external organisation), Herranz-Ors, C. (external organisation), Islam, A. (external organisation), Prado, X. (external organisation), Llorente, A. (external organisation), Petit, A. (external organisation), Vidal, A. (external organisation), Catala, I. (external organisation), Soler, T. (external organisation), Venturas, G. (external organisation), Rojo-Sebastian, A. (external organisation), Serra, H. (external organisation), Cuadras, D. (external organisation), Blanco, I. (external organisation), Lozano, J. (external organisation), Canals, F. (external organisation), Sieuwerts, A.M. (medical oncology), Weerd, V. de (medical oncology), Look, M.P. (external organisation), Puertas, S. (external organisation), Garcia, N. (external organisation), Perkins, A.S. (external organisation), Bonifaci, N. (external organisation), Skowron, M. (external organisation), Gomez-Baldo, L. (external organisation), Hernandez, V. (external organisation), Martinez-Aranda, A. (external organisation), Martinez-Iniesta, M. (external organisation), Serrat, X. (external organisation), Ceron, J. (external organisation), Brunet, J. (external organisation), Barretina, M.P. (external organisation), Gil, M. (external organisation), Falo, C. (external organisation), Fernandez, A. (external organisation), Morilla, I. (external organisation), Pernas, S. (external organisation), Pla, M.J. (external organisation), Andreu, X. (external organisation), Segui, M.A. (external organisation), Ballester, R. (external organisation), Castella, E. (external organisation), Nellist, M. (clinical genetics), Morales, S. (external organisation), Valls, J. (external organisation), Velasco, A. (external organisation), Matias-Guiu, X. (external organisation), Figueras, A. (external organisation), Sanchez-Mut, J.V. (external organisation), Sanchez-Cespedes, M. (external organisation), Cordero, A. (external organisation), Gomez-Miragaya, J. (external organisation), Palomero, L. (external organisation), Gomez, A. (external organisation), Gajewski, T.F. (external organisation), Cohen, E.E.W. (external organisation), Jesiotr, M. (external organisation), Bodnar, L. (external organisation), Quintela-Fandino, M. (external organisation), Lopez-Bigas, N. (external organisation), Valdes-Mas, R. (external organisation), Puente, X. (external organisation), Vinals, F. (external organisation), Casanovas, O. (external organisation), Graupera, M. (external organisation), Hernandez-Losa, J. (external organisation), Cajal, S. (external organisation), Garcia-Alonso, L. (external organisation), Saez-Rodriguez, J. (external organisation), Esteller, M. (external organisation), Sierra, A. (external organisation), Martin-Martin, N. (external organisation), Matheu, A. (external organisation), Carracedo, A. (external organisation), Gonzalez-Suarez, E. (external organisation), Nanjundan, M. (external organisation), Cortes, J. (external organisation), Lazaro, C. (external organisation), Odero, M.D. (external organisation), Martens, J.W.M. (medical oncology), Moreno-Bueno, G. (external organisation), Barcellos-Hoff, M. (external organisation), Villanueva, A. (external organisation), Gomis, R. (external organisation) & Pujana, M. (external organisation) (2017). Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition. Oncogene, 36 (19), 2737-2749. doi: 10.1038/onc.2016.427
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- Academic (Article/Letter to the editor)

Mattioli, F. (external organisation), Schaefer, E. (external organisation), Magee, A. (external organisation), Mark, P. (external organisation), Mancini, G.M. (clinical genetics), Dieterich, K. (external organisation), Allmen, G. Von (external organisation), Alders, M. (external organisation), Coutton, C. (external organisation), Slegtenhorst, M.A. van (clinical genetics), Vieville, G. (external organisation), Engelen, M. (external organisation), Cobben, J. (external organisation), Juusola, J. (external organisation), Pujol, A. (external organisation), Mandel, J. (external organisation) & Piton, A. (external organisation) (2017). Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. American Journal of Human Genetics, 100 (1), 105-116. doi: 10.1016/j.ajhg.2016.11.010
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- Academic (Article/Letter to the editor)

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- Academic (Article/Letter to the editor)

McCann, C.J. (external organisation), Cooper, J.E. (external organisation), Natarajan, D. (external organisation), Jevans, B. (external organisation), Burnett, L.E. (external organisation), Burns, AJ (clinical genetics) & Thapar, N. (external organisation) (2017). Transplantation of enteric nervous system stem cells rescues nitric oxide synthase deficient mouse colon. Nature Communications, 8:15937. doi: 10.1038/ncomms15937
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- Academic (Article/Letter to the editor)

Michailidou, K. (external organisation), Lindstrom, S. (external organisation), Dennis, J. (external organisation), Beesley, J. (external organisation), Hui, S. (external organisation), Kar, S. (external organisation), Lemacon, A. (external organisation), Soucy, P. (external organisation), Glubb, D. (external organisation), Rostamianfar, A. (external organisation), Bolla, M. (external organisation), Wang, Q. (external organisation), Tyrer, J. (external organisation), Dicks, E. (external organisation), Lee, A. van der (external organisation), Wang, Z.M. (external organisation), Allen, J. (external organisation), Keeman, R. (external organisation), Eilber, U. (external organisation), French, J. (external organisation), Chen, X. (external organisation), Fachal, L. (external organisation), Mccue, K. (external organisation), McCart, A.E. (external organisation), Reed, A.E.M. (external organisation), Ghoussaini, M. (external organisation), Carroll, J.S. (external organisation), Jiang, X. (external organisation), Finucane, H. (external organisation), Adams, M. (external organisation), Adank, M. (external organisation), Ahsan, H. (external organisation), Aittomaki, K. (external organisation), Anton-Culver, H. (external organisation), Antonenkova, N. (external organisation), Arndt, V. (external organisation), Aronson, K.J. (external organisation), Arun, B. (external organisation), Auer, P. (external organisation), Bacot, F. (external organisation), Barrdahl, M. (external organisation), Baynes, C. (external organisation), Beckmann, M. (external organisation), Behrens, S. (external organisation), Benitez, J. (external organisation), Bermisheva, M. (external organisation), Bernstein, L. (external organisation), Blomqvist, C. (external organisation), Bogdanova, N. (external organisation), Bojesen, S. (external organisation), Bonanni, B. (external organisation), Borresen-Dale, A. (external organisation), Brand, J. (external organisation), Brauch, H. 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(external organisation), Cornelissen, S. (external organisation), Cox, D. (external organisation), Cox, A. (external organisation), Cross, S. (external organisation), Cunningham, J. (external organisation), Czene, K. (external organisation), Daly, M.B. (external organisation), Devilee, P. (external organisation), Doheny, K. (external organisation), Dork, T. (external organisation), dos-Santos-Silva, I. (external organisation), Dumont, M. (external organisation), Durcan, L. (external organisation), Dwek, M. (external organisation), Eccles, D.M. (external organisation), Ekici, A. (external organisation), Eliassen, A.H. (external organisation), Ellberg, C. (external organisation), Elvira, M. (external organisation), Engel, C. (external organisation), Eriksson, M. (external organisation), Fasching, P. (external organisation), Figueroa, J. (external organisation), Flesch-Janys, D. (external organisation), Fletcher, O. (external organisation), Flyger, H. 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(external organisation), Lo, W.Y. (external organisation), Loibl, S. (external organisation), Long, J. (external organisation), Lophatananon, A. (external organisation), Lubinski, J. (external organisation), Luccarini, C. (external organisation), Lux, M. (external organisation), Ma, E. (external organisation), MacInnis, R.J. (external organisation), Maishman, T. (external organisation), Makalic, E. (external organisation), Malone, K. (external organisation), Kostovska, I.M. (external organisation), Mannermaa, A. (external organisation), Manoukian, S. (external organisation), Manson, J.E. (external organisation), Margolin, S. (external organisation), Mariapun, S. (external organisation), Martinez, M.E. (external organisation), Matsuo, K. (external organisation), Mavroudis, D. (external organisation), Mckay, J. (external organisation), McLean, C. (external organisation), Meijers-Heijboer, H. (external organisation), Meindl, A. (external organisation), Menendez, P. (external organisation), Menon, U. (external organisation), Meyer, J. (external organisation), Miao, H. (external organisation), Miller, N. (external organisation), Taib, N. (external organisation), Muir, K. (external organisation), Mulligan, A. (external organisation), Mulot, C. (external organisation), Neuhausen, S.L. (external organisation), Nevanlinna, H. (external organisation), Neven, P. (external organisation), Nielsen, S. (external organisation), Noh, D. (external organisation), Nordestgaard, B. (external organisation), Norman, A. (external organisation), Olopade, O. (external organisation), Olson, J. (external organisation), Olsson, H. (external organisation), Olswold, C. (external organisation), Orr, N. (external organisation), Pankratz, V. (external organisation), Park, S. (external organisation), Park-Simon, T. (external organisation), Lloyd, R. (external organisation), Perez, J. (external organisation), Peterlongo, P. (external organisation), Peto, J. 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F. (external organisation), Schurmann, P. (external organisation), Scott, R.J. (external organisation), Scott, C. (external organisation), Seal, S. (external organisation), Seynaeve, C.M. (medical oncology), Shah, M. (external organisation), Sharma, P. (external organisation), Shen, C. (external organisation), Sheng, G. (external organisation), Sherman, M. (external organisation), Shrubsole, M. (external organisation), Shu, X. (external organisation), Smeets, A. (external organisation), Sohn, C. (external organisation), Southey, M. (external organisation), Spinelli, J.J. (external organisation), Stegmaier, C. (external organisation), Stewart-Brown, S. (external organisation), Stone, J. (external organisation), Stram, D. (external organisation), Surowy, H. (external organisation), Swerdlow, A. (external organisation), Tamimi, R. (external organisation), Taylor, J.A. (external organisation), Tengstrom, M. (external organisation), Teo, S. (external organisation), Terry, M. (external organisation), Tessier, D. (external organisation), Thanasitthichai, S. (external organisation), Thone, K. (external organisation), Tollenaar, R. (external organisation), Tomlinson, I. (external organisation), Tong, L. (external organisation), Torres, D. (external organisation), Truong, T. (external organisation), Tseng, C. (external organisation), Tsugane, S. (external organisation), Ulmer, H. (external organisation), Ursin, G. (external organisation), Untch, M. (external organisation), Vachon, C. (external organisation), Asperen, C.J. van (external organisation), Berg, D. van den (external organisation), Ouweland, A.M.W. van den (clinical genetics), Kolk, L. van der (external organisation), Luijt, R.B. van der (external organisation), Vincent, D. (external organisation), Vollenweider, J. (external organisation), Waisfisz, Q. (external organisation), Wang-Gohrke, S. (external organisation), Weinberg, C.R. (external organisation), Wendt, C. (external organisation), Whittemore, A. (external organisation), Wildiers, H. (external organisation), Willett, W. (external organisation), Winqvist, R. (external organisation), Wolk, A. (external organisation), Wu, A. (external organisation), Xia, L. (external organisation), Yamaji, T. (external organisation), Yang, X. (external organisation), Yip, C.H. (external organisation), Yoo, K. (external organisation), Yu, J. (external organisation), Zheng, W. (external organisation), Zheng, Y (cardiology), Zhu, B. (external organisation), Ziogas, A. (external organisation), Ziv, E. (external organisation), Lakhani, S.R. (external organisation), Antoniou, A. (external organisation), Droit, A. (external organisation), Andrulis, I.L. (external organisation), Amos, C. (external organisation), Couch, F.J. (external organisation), Pharoah, P. (external organisation), Chang-Claude, J. (external organisation), Hall, P. (external organisation), Hunter, D. (external organisation), Milne, R. (external organisation), Garcia-Closas, M. (external organisation), Schmidt, M. (external organisation), Chanock, S. (external organisation), Dunning, A.M. (external organisation), Edwards, S. (external organisation), Bader, G. (external organisation), Chenevix-Trench, G. (external organisation), Simard, J. (external organisation), Kraft, P. (external organisation) & Easton, D.F. (external organisation) (2017). Association analysis identifies 65 new breast cancer risk loci. Nature, 551 (7678), 92-+. doi: 10.1038/nature24284
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(external organisation), Hartman, M. (external organisation), Hogervorst, F. (external organisation), Hollestelle, A. (medical oncology), Hopper, J.L. (external organisation), Ito, H. (external organisation), Jakubowska, A. (external organisation), Kang, D. (external organisation), Kosma, V. (external organisation), Kristensen, V. (external organisation), Lai, K.N. (external organisation), Lambrechts, D. (external organisation), Marchand, L. Le (external organisation), Li, J. (external organisation), Lindblom, A. (external organisation), Lophatananon, A. (external organisation), Lubinski, J. (external organisation), Machackova, E. (external organisation), Mannermaa, A. (external organisation), Margolin, S. (external organisation), Marme, F. (external organisation), Matsuo, K. (external organisation), Miao, H. (external organisation), Michailidou, K. (external organisation), Milne, R. (external organisation), Muir, K. (external organisation), Neuhausen, S.L. 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(external organisation), Tomlinson, I. (external organisation), Torres, D. (external organisation), Truong, T. (external organisation), Asperen, C.J. van (external organisation), Kolk, L. van der (external organisation), Wang, Q. (external organisation), Winqvist, R. (external organisation), Wu, A. (external organisation), Yu, J. (external organisation), Zheng, W. (external organisation), Zheng, Y. (external organisation), Leary, J. (external organisation), Walker, L. (external organisation), Foretova, L. (external organisation), Fostira, F. (external organisation), Claes, K. (external organisation), Varesco, L. (external organisation), Moghadasi, S. (external organisation), Easton, D.F. (external organisation), Spurdle, A. (external organisation), Devilee, P. (external organisation), Vrieling, H. (external organisation), Monteiro, A. (external organisation), Goldgar, D.E. (external organisation), Carreira, A. (external organisation), Vreeswijk, M.P.G. 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Springelkamp, H. (epidemiology + ophthalmology), Iglesias Gonzalez, A.I. (ophthalmology + epidemiology), Mishra, A. (external organisation), Hohn, R. (external organisation), Wojciechowski, R. (external organisation), Khawaja, A. (external organisation), Nag, A. (external organisation), Wang, Y. (external organisation), Wang, J.J. (external organisation), Cuellar-Partida, G. (external organisation), Gibson, J. (external organisation), Bailey, J. (external organisation), Vithana, E. (external organisation), Gharahkhani, P. (external organisation), Boutin, T. (external organisation), Ramdas, W.D. (ophthalmology), Zeller, T. (external organisation), Luben, R. (external organisation), Yonova-Doing, E. (external organisation), Viswanathan, A. (external organisation), Yazar, S. (external organisation), Cree, A. (external organisation), Haines, J.L. (external organisation), Koh, J.Y. (external organisation), Souzeau, E. (external organisation), Wilson, J. (external organisation), Amin, N. (epidemiology), Muller, C. (external organisation), Venturini, C. (external organisation), Kearns, L. (external organisation), Kang, J.H. (external organisation), Tham, Y.C. (external organisation), Zhou, T. (external organisation), Leeuwen, E.M. van (external organisation), Nickels, S. (external organisation), Sanfilippo, P. (external organisation), Liao, J. (external organisation), Linde, H. van der (external organisation), Zhao, W.T. (external organisation), Koolwijk, L.M.E. van (epidemiology), Zheng, L. (external organisation), Rivadeneira, F. (internal medicine + epidemiology), Baskaran, M. (external organisation), Lee, S.J. van der (epidemiology), Perera, S. (external organisation), Jong, P. (external organisation), Oostra, B.A. (clinical genetics), Uitterlinden, A.G. (internal medicine + epidemiology), Fan, Q. (external organisation), Hofman, A. (epidemiology), Tai, E. (external organisation), Vingerling, J.R. (ophthalmology), Sim, X. (external organisation), Wolfs, R.C.W. (ophthalmology), Teo, Y. (external organisation), Lemij, H. (external organisation), Khor, C.C. (external organisation), Willemsen, R. (clinical genetics), Lackner, K. (external organisation), Aung, T. (external organisation), Jansonius, N. (external organisation), Montgomery, G. (external organisation), Wild, P. (external organisation), Young, T. (external organisation), Burdon, K. (external organisation), Hysi, P. (external organisation), Pasquale, L. (external organisation), Wong, T. (external organisation), Klaver, C.C.W. (ophthalmology + epidemiology), Hewitt, A. (external organisation), Jonas, J.B. (external organisation), Mitchell, P. (external organisation), Lotery, A. (external organisation), Foster, P. (external organisation), Vitart, V. (external organisation), Pfeiffer, N. (external organisation), Craig, J. (external organisation), Mackey, D. (external organisation), Hammond, C. (external organisation), Wiggs, J. (external organisation), Cheng, C. (external organisation), Duijn, C.M. van (epidemiology) & Macgregor, S. (external organisation) (2017). New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Human Molecular Genetics, 26 (2), 438-453. doi: 10.1093/hmg/ddw399
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Srebniak, M.I. (clinical genetics), Joosten, M. (Clinical genetics), Knapen, M.F.C.M. (gynaecology/obstetrics), Arends, L.R. (Department of Psychology), Polak, M.G. (Department of Psychology), van Veen, S. (external organisation), Go, A.T.J.I. (external organisation) & Opstal, D. van (clinical genetics) (2017). Frequency of submicroscopic chromosome aberrations in pregnancies without increased risk for structural chromosome aberrations: a systematic review of literature and meta-analysis. Ultrasound in Obstetrics & Gynecology. doi: 10.1002/uog.17533
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Srebniak, M.I. (clinical genetics), Knapen, M.F.C.M. (gynaecology/obstetrics), Polak, M.G. (Department of Psychology), Joosten, A.M.S. (clinical genetics), Diderich, K.E.M. (clinical genetics), Govaerts, L.C.P. (clinical genetics), Boter, M. (clinical genetics), Kromosoeto, J.N.R. (clinical genetics), Hassel, D.A.C.M. van (clinical genetics), Huijbregts, G.C.M. (clinical genetics), IJcken, W.F.J. van (cell biology), Heydanus, R. (gynaecology/obstetrics), Dijkman, A. (gynaecology/obstetrics), Toolenaar, A.A.M. (gynaecology/obstetrics), Vries, F.A.T. de (clinical genetics), Knijnenburg, J. (clinical genetics), Go, A.T.J.I. (gynaecology/obstetrics), Galjaard, R.J.H. (clinical genetics) & Opstal, D. van (clinical genetics) (2017). The influence of SNP-based chromosomalmicroarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies. Human Mutation, 38 (7), 880-888. doi: 10.1002/humu.23232
- http://dx.doi.org/10.1002/humu.23232 (Metis)
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Stroobants, S. (external organisation), Acker, N.G.G. Van (external organisation), Verheijen, F.W. (clinical genetics), Goris, I. (external organisation), Daneels, G.F.T. (external organisation), Schot, R. (clinical genetics), Verbeek, E. (clinical genetics), Knaapen, M.W.M. (external organisation), Bondt, A. de (external organisation), Gohlmann, H.W. (external organisation), Crauwels, M.L.A. (external organisation), Mancini, G.M.S. (clinical genetics), Andries, L.J. (external organisation), Moechars, D.W.E. (external organisation) & D'Hooge, R. (external organisation) (2017). Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice. Experimental Neurology, 291, 106-119. doi: 10.1016/j.expneuro1.2017.02.009
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Stryjewska, A. (external organisation), Dries, R. (cell biology), Pieters, T. (external organisation), Verstappen, G. (external organisation), Conidi, A. (cell biology), Coddens, K. (external organisation), Francis, A. (external organisation), Umans, L. (external organisation), IJcken, W.F.J. van (cell biology + clinical genetics), Berx, G. (external organisation), Grunsven, L.A. (external organisation), Grosveld, F.G. (cell biology), Goossens, S. (external organisation), Haigh, J. (external organisation) & Huylebroeck, D.F.E. (cell biology) (2017). Zeb2 Regulates Cell Fate at the Exit from Epiblast State in Mouse Embryonic Stem Cells. Stem Cells, 35 (3), 611-625. doi: 10.1002/stem.2521
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Symoens, S. (external organisation), Steyaert, W. (external organisation), Demuynck, L. (external organisation), Paepe, A. de (external organisation), Diderich, K.E.M. (clinical genetics), Malfait, F. (external organisation) & Coucke, P.J. (external organisation) (2017). Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. American Journal of Medical Genetics Part A, 173 (4), 1047-1050. doi: 10.1002/ajmg.a.38135
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Tarailo-Graovac, M. (external organisation), Drogemoller, B.I. (external organisation), Wasserman, W.W. (external organisation), Ross, C. (external organisation), Ouweland, A.M.W. van den (clinical genetics), Darin, N. (external organisation), Kollberg, G. (external organisation), Karnebeek, C. van (external organisation) & Blomqvist, M. (external organisation) (2017). Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. Orphanet Journal of Rare Diseases, 12:28. doi: 10.1186/s13023-017-0584-6
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Terlizzi, R. (external organisation), Valentino, M. (external organisation), Bartoletti-Stella, A. (external organisation), Columbaro, M. (external organisation), Piras, S. (external organisation), Stanzani-Maserati, M. (external organisation), Quadri, M. (clinical genetics), Breedveld, G.J. (clinical genetics), Bonifati, V. (clinical genetics), Martinelli, P. (external organisation), Parchi, P. (external organisation) & Capellari, S. (external organisation) (2017). Muscle Ceroid Lipofuscin-Like Deposits in a Patient with Corticobasal Syndrome due to a Progranulin Mutation. Movement Disorders, 32 (8), 1259-1260. doi: 10.1002/mds.27049
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Theunissen, T.E.J. (external organisation), Sallevelt, S. (external organisation), Hellebrekers, D. (external organisation), Koning, B. de (external organisation), Hendrickx, A.T.M. (external organisation), Bosch, B.J.C. van den (external organisation), Kamps, R. (external organisation), Schoonderwoerd, G.C. (clinical genetics), Szklarczyk, R. (external organisation), Mulder - den Hartog, N.M. (neurology), Coo, I.F.M. de (neurology) & Smeets, H.J.M. (external organisation) (2017). Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. Journal of Pediatrics, 182, 371-374. doi: 10.1016/j.jpeds.2016.12.032
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Theunissen, T.E.J. (external organisation), Gerards, M. (external organisation), Hellebrekers, D. (external organisation), Tienen, F.H. van (external organisation), Kamps, R. (external organisation), Sallevelt, S. (external organisation), Hartog, E. (external organisation), Scholte, H.R. (neurosciences), Verdijk, R.M. (pathology), Schoonderwoerd, G.C. (clinical genetics), Coo, I.F.M. de (neurology), Szklarczyk, R. (external organisation) & Smeets, H.J.M. (external organisation) (2017). Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect. FRONTIERS IN MOLECULAR NEUROSCIENCE, 10:336. doi: 10.3389/fnmol.2017.00336
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Thiel, B.S. van (pharmacology + surgery), Martini, A.G. (internal medicine), Riet, L. te (internal medicine + surgery), Severs, D. (internal medicine), Uijl, E. (internal medicine), Garrelds, I.M. (internal medicine), Leijten, F.P.J. (internal medicine), Pluijm, I. van der (clinical genetics + surgery), Essers, J. (surgery + radiotherapy + genetics), Qadri, F. (external organisation), Alenina, N. (external organisation), Bader, M. (external organisation), Paulis, L. (external organisation), Rajkovicova, R. (external organisation), Domenig, O. (external organisation), Poglitsch, M. (external organisation) & Danser, A.H.J. (internal medicine) (2017). Brain Renin-Angiotensin System Does It Exist? Hypertension, 69 (6), 1136-+. doi: 10.1161/hypertensionaha.116.08922
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Urbani, L. (external organisation), Maghsoudlou, P. (external organisation), Milan, A. (external organisation), Menikou, M. (external organisation), Hagen, C.K. (external organisation), Totonelli, G. (external organisation), Camilli, C. (external organisation), Eaton, S. (external organisation), Burns, AJ (clinical genetics), Olivo, A. (external organisation) & Coppi, P. De (external organisation) (2017). Long-term cryopreservation of decellularised oesophagi for tissue engineering clinical application. PLoS One (print), 12 (6):e0179341. doi: 10.1371/journal.pone.0179341
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Van der Steen, S.L. (clinical genetics), Bunnik, E.M. (medical history), Polak, M.G. (Department of Psychology), Diderich, K.E.M. (clinical genetics), Verhagen-Visser, J. (external organisation), Govaerts, L.C.P. (clinical genetics), Joosten, M. (Clinical genetics), Knapen, M.F.C.M. (gynaecology/obstetrics), Go, A.T.J.I. (external organisation), Srebniak, M.I. (clinical genetics), Galjaard, R. (clinical genetics), Tibben, A. (clinical genetics) & Riedijk, S.R. (clinical genetics) (2017). Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude? JOURNAL OF GENETIC COUNSELING. doi: 10.1007/s10897-017-0124-5
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Vanhauwaert, R. (external organisation), Kuenen, S. (external organisation), Masius, R.G. (clinical genetics), Bademosi, A. (external organisation), Manetsberger, J. (external organisation), Schoovaerts, N. (external organisation), Bounti, L. (external organisation), Gontcharenko, S. (external organisation), Swerts, J. (external organisation), Vilain, S. (external organisation), Picillo, M. (external organisation), Barone, P. (external organisation), Munshi, S.T. (Psychiatry), Vrij, F.M.S. de (Psychiatry), Kushner, S.A. (Psychiatry), Gounko, N.V. (external organisation), Mandemakers, W.J. (clinical genetics), Bonifati, V. (clinical genetics), Meunier, F.A. (external organisation), Soukup, S.F. (external organisation) & Verstreken, P. (external organisation) (2017). The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals. Embo Journal, 36 (10), 1392-1411. doi: 10.15252/embj.201695773
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Veenbergen, S. (pediatrics-other), Leeuwen, M.A. van (pediatrics-other), Driessen, G.J.A. (pediatrics-immuno/infection), Kersseboom, R. (clinical genetics), Ruiter, L.F. de (pediatrics-other), Raatgeep, H.C. (pediatrics-other), Kortleve, D.J. (pediatrics-other), Simons-Oosterhuis, Y. (pediatrics), Biermann, K. (pathology), Halley, D.J.J. (clinical genetics), Ridder, L. de (pediatrics-gastro), Escher, J.C. (pediatrics-gastro) & Samsom, J.N. (pediatrics-other) (2017). Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor. Journal of Pediatric Gastroenterology and Nutrition, 65 (1), E5-E15. doi: 10.1097/mpg.0000000000001559
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Velzen, H.G. van (Erasmus MC afdeling), Schinkel, A.F.L. (cardiology), Oldenburg, R.A. (clinical genetics), Slegtenhorst, M.A. van (clinical genetics), Frohn-Mulder, I.M.E. (pediatrics-cardiology), Velden, J. van der (external organisation) & Michels, M. (cardiology) (2017). Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation. Circulation-cardiovascular genetics, 10 (4):UNSP e001660. doi: 10.1161/circgenetics.116.001660
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Vergouw, L.J.M. (neurology), Steenoven, I. van (external organisation), Berg, W.D.J. van de (external organisation), Teunissen, C. (external organisation), Swieten, J.C. van (neurology), Bonifati, V. (clinical genetics), Lemstra, A.W. (external organisation) & Jong, F.J. de (neurology) (2017). An update on the genetics of dementia with Lewy bodies. Parkinsonism & Related Disorders, 43, 1-8. doi: 10.1016/j.parkreldis.2017.07.009
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Vollebregt, A.A.M. (pediatrics-other), Hoogeveen-Westerveld, M. (clinical genetics), Kroos, M.A. (clinical genetics), Oussoren, E. (pediatrics-metobolic/genetics), Plug, I. (pediatrics-other), Ruijter, G. (clinical genetics), Ploeg, A.T. van der (pediatrics-metobolic/genetics) & Pijnappel, W.W.M. (clinical genetyics +pediatrics) (2017). Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. Developmental Medicine & Child Neurology, 59 (10), 1063-1070. doi: 10.1111/dmcn.13467
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Vries, J.M. de (external organisation), Kuperus, E. (EMC overig), Hoogeveen-Westerveld, M. (clinical genetics), Kroos, M.A. (external organisation), Wens, S.C.A. (neurology), Stok, M. (pediatrics-other), Beek, N.A.M.E. van der (pediatrics-other), Kruijshaar, M.E. (pediatrics-other), Rizopoulos, D. (Biostatistics), Doorn, P.A. van (neurology), Ploeg, A.T. van der (pediatrics-metobolic/genetics) & Pijnappel, W. (external organisation) (2017). Addressing a patient-controlled approach for genomic data sharing Response. Genetics in Medicine, 19 (11), 1282-1283. doi: 10.1038/gim.2017.49
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Vries, J.M. de (neurology), Kuperus, E. (pediatrics-other), Hoogeveen-Westerveld, M. (clinical genetics), Kroos, M.A. (clinical genetics), Wens, S.C.A. (neurology), Stok, M. (pediatrics-other), Beek, N.A.M.E. van der (neurology + pediatrics-other), Kruijshaar, M.E. (pediatrics-other), Rizopoulos, D. (Biostatistics), Doorn, P.A. van (neurology), Ploeg, A.T. van der (pediatrics-metobolic/genetics) & Pijnappel, W.W.M. (pediatrics) (2017). Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genetics in Medicine, 19 (1), 90-97. doi: 10.1038/gim.2016.70
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Vroegindeweij, LHP (internal medicine), Langendonk, J.G. (internal medicine), Langeveld, M. (internal medicine), Hoogendoorn, M. (external organisation), Maat-Kievit, J.A. (clinical genetics), Raimondo, D. (external organisation), Wilson, J.H.P. (internal medicine) & Boon, A.J.W. (neurology) (2017). New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. Parkinsonism & Related Disorders, 36, 33-40. doi: 10.1016/j.parkreldis.2016.12.010
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Wain, L. (external organisation), Vaez, A. (external organisation), Jansen, R. (external organisation), Joehanes, R. (external organisation), Most, P. van der (external organisation), Erzurumluoglu, A.M. (external organisation), O'Reilly, P. (external organisation), Cabrera, C.P. (external organisation), Warren, H. (external organisation), Rose, L. (external organisation), Verwoert, G.C. (epidemiology), Hottenga, J. (external organisation), Strawbridge, R. (external organisation), Esko, T. (external organisation), Arking, D. (external organisation), Hwang, S. (external organisation), Guo, X. (external organisation), Kutalik, Z. (external organisation), Trompet, S. (external organisation), Shrine, N. (external organisation), Teumer, A. (external organisation), Ried, J. (external organisation), Bis, J. (external organisation), Smith, A. (external organisation), Amin, N. (epidemiology), Nolte, I. (external organisation), Lyytikainen, L. (external organisation), Mahajan, A. 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Wal, E. van der (clinical genetics), Bergsma, A.J. (pediatrics-clinical genetics), Pijnenburg, J.M. (pediatrics-clinical geneticsr), Ploeg, A.T. van der (pediatrics-metobolic/clinical genetics) & Pijnappel, W.W.M. (pediatrics+clinical genetics) (2017). Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T > G GAA Splicing Variant in Pompe Disease. Molecular therapy. Nucleic acids, 7, 90-100. doi: 10.1016/j.omtn.2017.03.001
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Wal, E. van der (clinical genetics), Bergsma, A.J. (pediatrics-clinical genetics), Gestel, T.J.M. van (clinical genetics), Groen, S.L.M. in 't (pediatrics-clinical geneticsr), Zaehres, H. (external organisation), Arauzo-Bravo, M.J. (external organisation), Scholer, H.R. (external organisation), Ploeg, A.T. van der (pediatrics-metobolic/clinical genetics) & Pijnappel, W.W.M. (pediatrics+clinical gentics) (2017). GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells. Molecular therapy. Nucleic acids, 7, 101-115. doi: 10.1016/j.omtn.2017.03.002
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Wit, M.C. de (gynaecology/obstetrics), Srebniak, M.I. (clinical genetics), Joosten, A.M.S. (clinical genetics), Govaerts, L.C.P. (clinical genetics), Kornelisse, R.F. (pediatrics-IC/N), Papatsonis, D. (external organisation), Graaff, K. de (external organisation), Knapen, M. (external organisation), Brüggenwirth, H.T. (clinical genetics), Vries, F.A.T. de (clinical genetics), Veen, S. van (clinical genetics), Opstal, D. van (clinical genetics), Galjaard, R.J.H. (clinical genetics) & Go, A.T.J.I. (gynaecology/obstetrics) (2017). Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks. Ultrasound in Obstetrics & Gynecology, 49 (3), 342-348. doi: 10.1002/uog.15949
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Witte, S.F.H. de (internal medicine), Lambert, E.E. (internal medicine), Merino Rodriguez, A.M. (internal medicine), Strini, T. (internal medicine), Douben, J.C.W. (clinical genetics), O'Flynn, L. (external organisation), Elliman, S.J. (external organisation), Klein, A. de (clinical genetics), Newsome, P. (external organisation), Barn, C.C. (internal medicine) & Hoogduijn, M.J. (internal medicine) (2017). Aging of bone marrow- and umbilical cord-derived mesenchymal stromal cells during expansion. Cytotherapy, 19 (7), 798-807. doi: 10.1016/j.jcyt.2017.03.071
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Zeidler, S. (clinical genetics), Boer, H. de (clinical genetics), Hukema, R.K. (clinical genetics) & Willemsen, R. (clinical genetics) (2017). Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously. FRONTIERS IN MOLECULAR NEUROSCIENCE, 10:368. doi: 10.3389/fnmol.2017.00368
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Doctoral thesis

Goos, J.A.C. (plastic and reconstructive surgery) (2017, December 20). Facing the Future of Craniofacial Genetics. EUR Supervisor(s): Prof. Dr. I.M.J. Mathijssen, Prof. Dr. P.J. van der Spek & Dr. Ir. A.M.W. van den Ouweland.
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Iglesias Gonzalez, A.I. (epidemiology) (2017, May 23). From Gene Discovery to Understanding the Molecular Pathways in Primary Open-Angle Glaucoma. EUR (279 pag.) Supervisor(s): Prof. Dr. Ir. C.M. van Duijn, Prof. Dr. C.C.W. Klaver & Prof. Dr. R. Willemsen.
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Wal, E. van der (clinical genetics) (2017, October 12). Modeling of Pompe Disease using Induced Pluripotent Stem Cells for the Development of Novel Therapies. EUR Supervisor(s): Prof. Dr. A.T. van der Ploeg, Prof. Dr. R.M.W. Hofstra & Drs. W.W.M. Pijnappel.
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Zeidler, S. (clinical genetics) (2017, October 4). Fragile X Syndrome : the quest for targeted treatment. Erasmus Supervisor(s): Prof. Dr. R. Willemsen & Drs. R.K. Hukema.
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- Dissertation 1 (Doctoral thesis)