Martijn Breuning
Emeritus hoogleraar Klinische Genetica
- Naam
- Prof.dr. M.H. Breuning
- Telefoon
- +31 71 526 9111
- m.h.breuning@lumc.nl
- ORCID iD
- 0000-0002-8212-4319
Klinische genetica
De kennis over genetica groeit explosief. Ik prijs mij gelukkig in Leiden hoogleraar in de klinische genetica te zijn, want juist hier is de integratie van fundamenteel en klinisch onderzoek ver gevorderd. Hierdoor kunnen wij nieuwe kennis snel toepassen in de klinische praktijk. Doordat mijn oudste zus het Syndroom van Down had, kreeg ik de genetica als het ware met de paplepel ingegoten. De grootste uitdaging is voor mij naast de fascinering voor alle nieuwe inzichten die de moleculaire biologie biedt, ook de betrokkenheid met een patient en zijn familie over te brengen op een volgende generatie medici en onderzoekers.
Op 11 juni 1999 sprak hij zijn oratie uit, getiteld: 'Geneeskunde, genetica en het toeval'.
Emeritus hoogleraar Klinische Genetica
- Faculteit Geneeskunde
- Divisie 4
- Klinische Genetica
- Weterman, M.A.J.; Kuo, M.; Kenter, S.B.; Gordillo, S.; Karjosukarso, D.W.; Takase, R.; Bronk, M.; Oprescu, S.; Ruissen, F. van; Witteveen, R.J.W.; Bienfait, H.M.E.; Breuning, M.; Verhamme, C.; Hou, Y.M.; Visser, M. de; Antonellis, A. & Baas, F. (2018), Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities, Human Molecular Genetics 27(23): 4036-4050.
- Haer-Wigman, L.; Zelst-Stams, W.A.G. van; Pfundt, R.; Born, L.I. van den; Klaver, C.C.W.; Verheij, J.B.G.M.; Hoyng, C.B.; Breuning, M.H.; Boon, C.J.F.; Kievit, A.J.; Verhoeven, V.J.M.; Pott, J.W.R.; Sallevelt, S.C.E.H.; Hagen, J.M. van; Plomp, A.S.; Kroes, H.Y.; Lelieveld, S.H.; Hehir-Kwa, J.Y.; Castelein, S.; Nelen, M.; Scheffer, H.; Lugtenberg, D.; Cremers, F.P.M.; Hoefsloot, L. & Yntema, H.G. (2017), Diagnostic exome sequencing in 266 Dutch patients with visual impairment, European Journal of Human Genetics 25(5): 591-599.
- Linde, I.H.M. van der; Hiemstra, Y.L.; Bokenkamp, R.; Mil, A.M. van; Breuning, M.H.; Ruivenkamp, C.; Broeke, S.W. ten; Veldkamp, R.F.; Waning, J.I. van; Slegtenhorst, M.A. van; Spaendonck-Zwarts, K.Y. van; Deprez, R.H.L.; Herkert, J.C.; , L. boven; Zwaag, P.A. van der; Jongbloed, J.D.H.; Bootsma, M. & Barge-Schaapveld, D.Q.C.M. (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.
- Pierrache, L.H.M.; Kimchi, A.; Ratnapriya, R.; Roberts, L.; Astuti, G.D.N.; Obolensky, A.; Beryozkin, A.; Tjon-Fo-Sang, M.J.H.; Schuil, J.; Klaver, C.C.W.; Bongers, E.M.H.F.; Haer-Wigman, L.; Schalij, N.; Breuning, M.H.; Fischer, G.M.; Banin, E.; Ramesar, R.S.; Swaroop, A.; Born, L.I. van den; Sharon, D. & Cremers, F.P.M. (2017), Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma, Ophthalmology: Journal of The American Academy of Ophthalmology 124(7): 992-1003.
- Leonhard, W.N.; Kunnen, S.J.; Plugge, A.J.; Pasternack, A.; Jianu, S.B.T.; Veraar, K.; Bouazzaoui, F. el; Hoogaars, W.M.H.; Dijke, P. ten; Breuning, M.H.; Heer, E. de; Ritvos, O. & Peters, D.J.M. (2016), Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease, Journal of the American Society of Nephrology 27(12): 3589-3599.
- Vasen, H.F.A.; Velthuizen, M.E.; Kleibeuker, J.H.; Menko, F.H.; Nagengast, F.M.; Cats, A.; Meulen-de Jong, A.E. van der; Breuning, M.H.; Roukema, A.J.; Leeuwen-Cornelisse, I. van; Cappel, W.H.D.T.N. & Wijnen, J.T. (2016), Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry, Familial Cancer 15(3): 429-435.
- Cnossen, W.R.; Morsche, R.H.M.T.; Hoischen, A.; Gilissen, C.; Venselaar, H.; Mehdi, S.; Bergmann, C.; Losekoot, M.; Breuning, M.H.; Peters, D.J.M.; Veltman, J.A. & Drenth, J.P.H. (2016), LRP5 variants may contribute to ADPKD, European Journal of Human Genetics 24(2): 237-242.
- Dauwerse, J.G.; Belzen, M. van; Haeringen, A. van; Santen, G. van; Lans, C. van de; Rahikkala, E.; Garavelli, L.; Breuning, M.; Hennekam, R. & Peters, D. (2016), Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS, European Journal of Human Genetics 24(11): 1639-1643.
- Leonhard, W.N.; Zandbergen, M.; Veraar, K.; Berg, S. van den; Weerd, L. van der; Breuning, M.; Heer, E. de & Peters, D.J.M. (2015), Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease, Journal of the American Society of Nephrology 26(6): 1322-1333.
- Weinreich, S.S.; Bosma, A.; Henneman, L.; Rigter, T.; Spruijt, C.M.J.; Grimbergen, A.J.E.M.A.; Breuning, M.H.; Koning, E.J.P. de; Losekoot, M. & Cornel, M.C. (2015), A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands, European Journal of Human Genetics 23(1): 29-33.
- Hoekstra, A.S.; Graaff, M.A. de; Briaire-de Bruijn, I.H.; Ras, C.; Seifar, R.M.; Minderhout, I. van; Cornelisse, C.J.; Hogendoorn, P.C.W.; Breuning, M.H.; Suijker, J.; Korpershoek, E.; Kunst, H.P.M.; Frizzell, N.; Devilee, P.; Bayley, J.P. & Bovee, J.V.M.G. (2015), Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors, Oncotarget 6(36): 38777-38788.
- Yamamoto, T.; Mencarelli, M.A.; Marco, C. di; Mucciolo, M.; Vascotto, M.; Balestri, P.; Gerard, M.; Mathieu-Dramard, M.; Andrieux, J.; Breuning, M.; Hoffer, M.J.V.; Ruivenkamp, C.A.L.; Shimada, S.; Sangu, N.; Shimojima, K.; Umezu, R.; Kawame, H.; Matsuo, M.; Saito, K.; Renieri, A. & Mari, F. (2014), Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA, European Journal of Medical Genetics 57(4): 163-168.
- Wit, J.M.; Duyvenvoorde, H.A. van; Klinken, J.B. van; Caliebe, J.; Bosch, C.A.J.; Lui, J.C.; Gijsbers, A.C.J.; Bakker, E.; Breuning, M.H.; Oostdijk, W.; Losekoot, M.; Baron, J.; Binder, G.; Ranke, M.B. & Ruivenkamp, C.A.L. (2014), Copy Number Variants in Short Children Born Small for Gestational Age, Hormone Research in Paediatrics 82(5): 310-318.
- Duyvenvoorde, H.A. van; Lui, J.C.; Kant, S.G.; Oostdijk, W.; Gijsbers, A.C.J.; Hoffer, M.J.V.; Karperien, M.; Walenkamp, M.J.E.; Noordam, C.; Voorhoeve, P.G.; Mericq, V.; Pereira, A.M.; Claahsen-van de Grinten, H.L.; Gool, S.A. van; Breuning, M.H.; Losekoot, M.; Baron, J.; Ruivenkamp, C.A.L. & Wit, J.M. (2014), Copy number variants in patients with short stature, European Journal of Human Genetics 22(5): 602-609.
- Madan, K. & Breuning, M.H. (2014), Impact of prenatal technologies on the sex ratio in India: an overview, Genetics in Medicine 16(6): 425-432.
- Hellemondt R.E. van, Hendriks A.C. & Breuning M.H. (2013), Het beperken van vrijheid van meningsuiting voor gezondheidsdiensten bezien vanuit EU- en grondrechtelijk perspectief, Tijdschrift voor Constitutioneel Recht 4(3): 184-204.
- Hilhorst-Hofstee, Y.; Scholte, A.J.H.A.; Rijlaarsdam, M.E.B.; Haeringen, A. van; Kroft, L.J.; Reijnierse, M.; Ruivenkamp, C.A.L.; Versteegh, M.I.M.; Pals, G. & Breuning, M.H. (2013), An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection, Clinical Genetics 83(4): 337-344.
- Santen, G.W.E.; Aten, E.; Vulto-van Silfhout, A.T.; Pottinger, C.; Bon, B.W.M. van; Minderhout, I.J.H.M. van; Snowdowne, R.; Lans, C.A.C. van der; Boogaard, M.; Linssen, M.M.L.; Vijfhuizen, L.; Wielen, M.J.R. van der; Vollebregt, M.J.; Breuning, M.H.; Kriek, M.; Haeringen, A. van; Dunnen, J.T. den; Hoischen, A.; Clayton-Smith, J.; Vries, B.B.A. de; Hennekam, R.C.M.; Belzen, M.J. van & Coffin-Siris Consortium (2013), Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients, Human Mutation 34(11): 1519-1528.
- Almomani, R.; Sun, Y.; Aten, E.; Hilhorst-Hofstee, Y.; Peeters-Scholte, C.M.P.C.D.; Haeringen, A. van; Hendriks, Y.M.C.; Dunnen, J.T. den; Breuning, M.H.; Kriek, M. & Santen, G.W.E. (2013), GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America, American Journal of Medical Genetics Part A 161A(5): 973-976.
- Sun, Y.; Almomani, R.; Breedveld, G.J.; Santen, G.W.E.; Aten, E.; Lefeber, D.J.; Hoff, J.I.; Brusse, E.; Verheijen, F.W.; Verdijk, R.M.; Kriek, M.; Oostra, B.; Breuning, M.H.; Losekoot, M.; Dunnen, J.T. den; Warrenburg, B.P. van de & Maat-Kievit, A.J.A. (2013), Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease), Human Mutation 34(5): 706-713.
- Helderman-van den Enden, A.T.J.M.; Madan, K.; Breuning, M.H.; Hout, A.H. van der; Bakker, E.; Die-Smulders, C.E.M. de & Ginjaar, H.B. (2013), An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy., European Journal of Human Genetics 21(1): 21-6.
- Happe, H.; Wal, A.M. van der; Salvatori, D.C.F.; Leonhard, W.N.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2013), Cyst expansion and regression in a mouse model of polycystic kidney disease, Kidney International 83(6): 1099-1108.
- Schoenmakers, N.; Sun, Y.; Bak, B.; Trotsenburg, A.S.P. van; Oostdijk, W.; Voshol, P.; Cambridge, E.; White, J.K.; Tissier, P. le; Gharavy, S.N.M.; Martinez-Barbera, J.P.; Stokvis-Brantsma, W.H.; Vulsma, T.; Kempers, M.J.; Persani, L.; Campi, I.; Bonomi, M.; Beck-Peccoz, P.; Zhu, H.; Davis, T.M.E.; Hokken-Koelega, A.C.S.; Blanco, D.G. del; Rangasami, J.J.; Ruivenkamp, C.A.L.; Laros, J.F.J.; Kriek, M.; Kant, S.G.; Bosch, C.A.J.; Biermasz, N.R.; Appelman-Dijkstra, N.M.; Corssmit, E.P.; Hovens, G.C.J.; Pereira, A.M.; Dunnen, J.T. den; Wade, M.G.; Breuning, M.H.; Hennekam, R.C.; Dattani, M.T.; Wit, J.M.; Bernard, D.J. & Chatterjee, K. (2013), Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement, Lancet 381: 15-15.
- Aten, E.; Sun, Y.; Almomani, R.; Santen, G.W.E.; Messemaker, T.; Maas, S.M.; Breuning, M.H. & Dunnen, J.T. den (2013), Exome Sequencing Identifies A Branch Point Variant in AarskogScott Syndrome, Human Mutation 34(3): 430-434.
- Novalic, Z.; Wal, A.M. van der; Leonhard, W.N.; Koehl, G.; Breuning, M.H.; Geissler, E.K.; Heer, E. de & Peters, D.J.M. (2012), Dose-Dependent Effects of Sirolimus on mTOR Signaling and Polycystic Kidney Disease, Journal of the American Society of Nephrology 23(5): 842-853.
- Nielsen, M.; Vermont, C.L.; Aten, E.; Ruivenkamp, C.A.L.; Herrewegen, F. van; Santen, G.W.E. & Breuning, M.H. (2012), Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia, Journal of Medical Genetics 49(9): 598-600.
- Aten, E.; Sun, Y.; Almomani, R.; Santen, G.W.E.; Messemaker, T.; Maas, S.M.; Breuning, M.H. & Dunnen, J.T. den (2012), Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome., Human Mutation.
- Santen, G.W.E.; Aten, E.; Sun, Y.; Almomani, R.; Gilissen, C.; Nielsen, M.; Kant, S.G.; Snoeck, I.N.; Peeters, E.A.J.; Hilhorst-Hofstee, Y.; Wessels, M.W.; Hollander, N.S. den; Ruivenkamp, C.A.L.; Ommen, G.J.B. van; Breuning, M.H.; Dunnen, J.T. den; Haeringen, A. van & Kriek, M. (2012), Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome, Nature Genetics 44(4): 379-380.
- Hilhorst-Hofstee, Y.; Scholte, A.J.H.A.; Rijlaarsdam, M.E.B.; Haeringen, A. van; Kroft, L.J.; Reijnierse, M.; Ruivenkamp, C.A.L.; Versteegh, M.I.M.; Pals, G. & Breuning, M.H. (2012), An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
- Breuning, M.H. (2012), Case 26-2011: A Boy with a Complex Kidney Cyst.
- Albers, C.A.; Paul, D.S.; Schulze, H.; Freson, K.; Stephens, J.C.; Smethurst, P.A.; Jolley, J.D.; Cvejic, A.; Kostadima, M.; Bertone, P.; Breuning, M.H.; Debili, N.; Deloukas, P.; Favier, R.; Fiedler, J.; Hobbs, C.M.; Huang, N.; Hurles, M.E.; Kiddle, G.; Krapels, I.; Nurden, P.; Ruivenkamp, C.A.L.; Sambrook, J.G.; Smith, K.; Stemple, D.L.; Strauss, G.; Thys, C.; Geet, C. van; Newbury-Ecob, R.; Ouwehand, W.H. & Ghevaert, C. (2012), Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome, Nature Genetics 44(4): 435-U248.
- Wit, J.M.; Duyvenvoorde, H.A. van; Scheltinga, S.A.; Bruin, S. de; Hafkenscheid, L.; Kant, S.G.; Ruivenkamp, C.A.L.; Gijsbers, A.C.J.; Doorn, J. van; Feigerlova, E.; Noordam, C.; Walenkamp, M.J.; Claahsen-van de Grinten, H.; Stouthart, P.; Bonapart, I.E.; Pereira, A.M.; Gosen, J.; Delemarre-van de Waal, H.A.; Hwa, V.; Breuning, M.H.; Domene, H.M.; Oostdijk, W. & Losekoot, M. (2012), Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity, Hormone Research in Paediatrics 77(5): 320-333.
- Sun, Y.; Bak, B.; Schoenmakers, N.; Trotsenburg, A.S.P. van; Oostdijk, W.; Voshol, P.; Cambridge, E.; White, J.K.; Tissier, P. le; Gharavy, S.N.M.; Martinez-Barbera, J.P.; Stokvis-Brantsma, W.H.; Vulsma, T.; Kempers, M.J.; Persani, L.; Campi, I.; Bonomi, M.; Beck-Peccoz, P.; Zhu, H.D.; Davis, T.M.E.; Hokken-Koelega, A.C.S.; Blanco, D.G. del; Rangasami, J.J.; Ruivenkamp, C.A.L.; Laros, J.F.J.; Kriek, M.; Kant, S.G.; Bosch, C.A.J.; Biermasz, N.R.; Appelman-Dijkstra, N.M.; Corssmit, E.P.; Hovens, G.C.J.; Pereira, A.M.; Dunnen, J.T. den; Wade, M.G.; Breuning, M.H.; Hennekam, R.C.; Chatterjee, K.; Dattani, M.T.; Wit, J.M. & Bernard, D.J. (2012), Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement, Nature Genetics 44(12): 1375-1381.
- Out, A.A.; Wasielewski, M.; Huijts, P.E.A.; Minderhout, I.J.H.M. van; Houwing-Duistermaat, J.J.; Tops, C.M.J.; Nielsen, M.; Seynaeve, C.; Wijnen, J.T.; Breuning, M.H.; Asperen, C.J. van; Schutte, M.; Hes, F.J. & Devilee, P. (2012), MUTYH gene variants and breast cancer in a Dutch case-control study, Breast Cancer Research and Treatment 134(1): 219-227.
- Boertien, W.E.; Meijer, E.; Zittema, D.; Dijk, M.A. van; Rabelink, T.J.; Breuning, M.H.; Struck, J.; Bakker, S.J.L.; Peters, D.J.M.; Jong, P.E. de & Gansevoort, R.T. (2012), Copeptin, a surrogate marker for vasopressin, is associated with kidney function decline in subjects with autosomal dominant polycystic kidney disease.
- Yiu, K.H.; Atsma, D.E.; Delgado, V.; Ng, A.C.T.; Witkowski, T.G.; Ewe, S.H.; Auger, D.; Holman, E.R.; Mil, A.M. van; Breuning, M.H.; Tse, H.F.; Bax, J.J.; Schalij, M.J. & Marsan, N.A. (2012), Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers, PLoS ONE 7(5): -.
- Albers, C.A.; Paul, D.; Schulze, H.; Freson, K.; Stephens, J.C.; Smethurst, P.A.; Jolley, J.D.; Cvejic, A.; Kostadima, M.; Bertone, P.; Breuning, M.H.; Debili, N.; Deloukas, P.; Favier, R.; Fiedler, J.; Hobbs, C.M.; Huang, N.; Hurles, M.E.; Kiddle, G.; Krapels, I.; Nurden, P.; Ruivenkamp, C.A.L.; Sambrook, J.G.; Smith, K.; Stemple, D.L.; Strauss, G.; Thys, C.; Geet, C. van; Newbury-Ecob, R.; Ouwehand, W.H. & Ghevaert, C. (2012), Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A, British Journal of Haematology 157: 9-9.
- Leonhard, W.N.; Wal, A. van der; Novalic, Z.; Kunnen, S.J.; Gansevoort, R.T.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2011), Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model, AJP - Renal Physiology 300(5): F1193-F1202.
- Kant, S.G.; Kamp, H.J. van der; Kriek, M.; Bakker, E.; Bakker, B.; Hoffer, M.J.V.; Bunderen, P. van; Losekoot, M.; Maas, S.M.; Wit, J.M.; Rappold, G. & Breuning, M.H. (2011), The Jumping SHOX Gene-Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis, Journal of Clinical Endocrinology and Metabolism 96(2): E356-E359.
- Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.L.; Haeringen, A. van; Hoefsloot, L.H.; Peters, D.J.M.; Boers, A.C.D.; Daumer-Haas, C.; Maiwald, R.; Zweier, C.; Kerr, B.; Cobo, A.M.; Toral, J.F.; Hoogeboom, A.J.M.; Lohmann, D.R.; Hehr, U.; Dixon, M.J.; Breuning, M.H. & Wieczorek, D. (2011), Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome, Nature Genetics 43(1): 20-22.
- Hilhorst-Hofstee, Y.; Hamel, B.C.; Verheij, J.B.G.M.; Rijlaarsdam, M.E.B.; Mancini, G.M.S.; Cobben, J.M.; Giroth, C.; Ruivenkamp, C.A.L.; Hansson, K.B.M.; Timmermans, J.; Moll, H.A.; Breuning, M.H. & Pals, G. (2011), The clinical spectrum of complete FBN1 allele deletions., European Journal of Human Genetics 19(3): 247-52.
- Helderman-van den Enden, A.T.J.M.; Bergen, J.C. van den; Breuning, M.H.; Verschuuren, J.J.G.M.; Tibben, A.; Bakker, E. & Ginjaar, H.B. (2011), Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
- Hassane, S.; Claij, N.; Jodar, M.; Dedman, A.; Lauritzen, I.; Duprat, F.; Koenderman, J.S.; Wal, A. van der; Breuning, M.H.; Heer, E. de; Honore, E.; DeRuiter, M.C. & Peters, D.J.M. (2011), Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension, Laboratory Investigation 91(1): 24-32.
- Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.L.; Haeringen, A. van; Hoefsloot, L.H.; Peters, D.J.M.; Boers, A.C.D.; Daumer-Haas, C.; Maiwald, R.; Zweier, C.; Kerr, B.; Cobo, A.M.; Toral, J.F.; Hoogeboom, A.J.M.; Lohmann, D.R.; Hehr, U.; Dixon, M.J.; Breuning, M.H. & Wieczorek, D. (2011), Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome., Nature Genetics 43(1): 20-2.
- Kant, S.G.; Kamp, H.J. van der; Kriek, M.; Bakker, E.; Bakker, B.; Hoffer, M.J.V.; Bunderen, P. van; Losekoot, M.; Maas, S.M.; Wit, J.M.; Rappold, G. & Breuning, M.H. (2011), The Jumping SHOX Gene--Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis.
- Happe, H.; Wal, A.M. van der; Leonhard, W.N.; Kunnen, S.J.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2011), Altered Hippo signalling in polycystic kidney disease, Journal of Pathology 224(1): 133-142.
- (2011), X-chromosome duplications in males with mental retardation: pathogenic or benign variants?, Clinical Genetics.
- Laue, K.; Pogoda, H.M.; Daniel, P.B.; Haeringen, A. van; Alanay, Y.; Ameln, S. von; Rachwalski, M.; Morgan, T.; Gray, M.J.; Breuning, M.H.; Sawyer, G.M.; Sutherland-Smith, A.J.; Nikkels, P.G.; Kubisch, C.; Bloch, W.; Wollnik, B.; Hammerschmidt, M. & Robertson, S.P. (2011), Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid, American Journal of Human Genetics 89(5): 595-606.
- Gijsbers, A.C.J.; Dauwerse, J.G.; Bosch, C.A.J.; Boon, E.M.J.; Ende, W. van den; Kant, S.G.; Hansson, K.M.B.; Breuning, M.H.; Bakker, E. & Ruivenkamp, C.A.L. (2011), Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation, European Journal of Medical Genetics 54(4): E409E412.
- Almomani, R.; Heijden, J. van der; Ariyurek, Y.; Lai, Y.C.; Bakker, E.; Galen, M. van; Breuning, M.H. & Dunnen, J.T. den (2011), Experiences with array-based sequence capture; toward clinical applications, European Journal of Human Genetics 19(1): 50-55.
- Gijsbers, A.C.J.; Hollander, N.S. den; Helderman-van de Enden, A.T.J.M.; Schuurs-Hoeijmakers, J.H.M.; Vijfhuizen, L.; Bijlsma, E.K.; Haeringen, A. van; Hansson, K.B.M.; Bakker, E.; Breuning, M.H. & Ruivenkamp, C.A.L. (2011), X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
- Leonhard, W.N.; Wal, A. van der; Novalic, Z.; Kunnen, S.J.; Gansevoort, R.T.; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2011), Curcumin inhibits cystogenesis by simultaneous interference of multiple signaling pathways: in vivo evidence from a Pkd1-deletion model., AJP - Renal Physiology 300(5): F1193-202.
- Visser, R.; Gijsbers, A.; Ruivenkamp, C.; Karperien, M.; Reeser, H.M.; Breuning, M.H.; Kant, S.G. & Wit, J.M. (2010), Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome, Hormone Research in Paediatrics 73(4): 265-274.
- Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H. & Hilhorst-Hofstee, Y. (2010), A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features, American Journal of Medical Genetics Part A 152A(2): 427-433.
- Aten, E.; Brasz, L.C.; Bornholdt, D.; Hooijkaas, I.B.; Porteous, M.E.; Sybert, V.P.; Vermeer, M.H.; Vossen, R.H.A.M.; Wielen, M.J.R. van der; Bakker, E.; Breuning, M.H.; Grzeschik, K.H.; Oosterwijk, J.C. & Dunnen, J.T. den (2010), Keratosis Follicularis Spinulosa Decalvans Is Caused by Mutations in MBTPS2, Human Mutation 31(10): 1125-1133.
- Hilhorst-Hofstee, Y.; Hamel, B.C.; Verheij, J.B.G.M.; Rijlaarsdam, M.E.B.; Mancini, G.M.S.; Cobben, J.M.; Giroth, C.; Ruivenkamp, C.A.L.; Hansson, K.B.M.; Timmermans, J.; Moll, H.A.; Breuning, M.H. & Pals, G. (2010), The clinical spectrum of complete FBN1 allele deletions. , European Journal of Human Genetics.
- Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H. & Hilhorst-Hofstee, Y. (2010), A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features., American Journal of Medical Genetics Part A 152A(2): 427-33.
- Hilhorst-Hofstee, Y.; Rijlaarsdam, M.E.B.; Scholte, A.J.H.A.; Swart-van den Berg, M.; Versteegh, M.I.M.; Schoot-van Velzen, I. van der; Schabitz, H.J.; Bijlsma, E.K.; Baars, M.J.; Kerstjens-Frederikse, W.S.; Giltay, J.C.; Hamel, B.C.; Breuning, M.H. & Pals, G. (2010), The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family., Human Mutation.
- Gijsbers, A.C.J.; Bosch, C.A.J.; Dauwerse, J.G.; Giromus, O.; Hansson, K.; Hilhorst-Hofstee, Y.; Kriek, M.; Haeringen, A. van; Bijlsma, E.K.; Bakker, E.; Breuning, M.H. & Ruivenkamp, C.A.L. (2010), Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes, European Journal of Medical Genetics 53(5): 227-233.
- Gijsbers, A.C.J.; Haeringen, A. van; Bosch, C.A.J.; Hansson, K.; Verschuren, M.; Bakker, E.; Breuning, M.H. & Ruivenkamp, C.A.L. (2010), A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplication., Cytogenetic and Genome Research 128(4): 245-9.
- Sun, Y.; Almomani, R.; Aten, E.; Celli, J.; Heijden, J. van der; Venselaar, H.; Robertson, S.P.; Baroncini, A.; Franco, B.; Basel-Vanagaite, L.; Horii, E.; Drut, R.; Ariyurek, Y.; Dunnen, J.T. den & Breuning, M.H. (2010), Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene, American Journal of Human Genetics 87(1): 146-153.
- Helderman-van den Enden, A.T.I.; Bergen, J.C. van den; Breuning, M.; Verschuuren, J.J.G.; Tibben, A.; Bakker, E. & Ginjaar, H.B. (2010), Duchenne/Becker in the family: are women aware of the potential risks?, Neuromuscular Disorders 20(9-10): 661-661.
- Hassane, S.; Leonhard, W.N.; Wal, A. van der; Hawinkels, L.J.A.C.; Lantinga-van Leeuwen, I.S.; Dijke, P. ten; Breuning, M.H.; Heer, E. de & Peters, D.J.M. (2010), Elevated TGF beta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease, Journal of Pathology 222(1): 21-31.
- Helbig, I.; Swinkels, M.E.M.; Moller, R.S.; Aten, E.; Brilstra, E.H.; Ostertag, P.; Reutlinger, C.; Caliebe, A.; Ruivenkamp, C.A.L.; Eleveld, M.J.; van't Slot, R.; Post, J.G.; Terhal, P.A.; Boor, R.; Spiczak, S. von; Muhle, H.; Klitten, L.L.; Nieuwenhuizen, O. van; Breuning, M.; Stephani, U.; Tommerup, N.; Hjalgrim, H.; Lindhout, D.; Koeleman, B.P. & Poot, M. (2010), RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES, Epilepsia 51: 107-108.
- Visser, R.; Gijsbers, A.; Ruivenkamp, C.; Karperien, M.; Reeser, H.M.; Breuning, M.H.; Kant, S.G. & Wit, J.M. (2010), Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome., Hormone Research in Paediatrics 73(4): 265-274.
- Happe H, Leonhard WN, van der Wal A, van de Water B, Lantinga-van Leeuwen IS, Breuning MH, de Heer E & Peters DJM (2009), Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways, Human Molecular Genetics 18(14): 2532-2542.
- Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH & Bakker E (2009), Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
- Visser R, Kant SG, Wit JM & Breuning MH (2009), Overgrowth syndromes:from classical to new., Pediatric Endocrinology Reviews 6(3): 375-94.
- Sikkema-Raddatz B, Doornbos M, Ruivenkamp C, Dijkhuizen T, Bijlsma E, Gijsbers A, Hordijk R, Kok K, Breuning M & van Ravenswaaij-Arts C (2009), Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi Angelman critical region; clinically relevant or not?, Chromosome Research 17: 52-53.
- Visser R, Koelma N, Vijfhuizen L, van der Wielen MJR, Kant SG, Breuning MH, Wit JM & Losekoot M (2009), RNF135 Mutations Are Not Present in Patients With Sotos Syndrome-Like Features, American Journal of Medical Genetics Part A 149A(4): 806-808.
- Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CAL, Dijkhuizen T, Bijlsma EK, Gijsbers ACJ, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT & Kerstjens-Frederikse WS (2009), Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances, European Journal of Medical Genetics 52(2-3): 108-115.
- Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G & Vogels A (2009), Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant, Journal of Medical Genetics 46(4): 223-232.
- Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J & Breuning M (2009), Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?, American Journal of Medical Genetics Part A 149A(5): 975-81.
- Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH & Ruivenkamp CA (2009), Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
- Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E & Ruivenkamp CA (2009), A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first., European Journal of Human Genetics 17(11): 1394-402.
- Breuning MH (2009), [Genetic associate studies in multifactorial genetic diseases], Nederlands Tijdschrift voor Geneeskunde 153(10): 428-9.
- Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J & Breuning M (2009), Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-Evidence for Further Heterogeneity?, American Journal of Medical Genetics Part A 149A(5): 975-981.
- Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P & Hes FJ (2009), Deep sequencing to reveal new variants in pooled DNA samples., Human Mutation 30(12): 1703-12.
- Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E & Torra R (2009), Unified Criteria for Ultrasonographic Diagnosis of ADPKD, Journal of the American Society of Nephrology 20(1): 205-212.
- Out AA, van Minderhout IJHM, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PEM, Tops CMJ, Breuning MH, van Ommen GJB, den Dunnen JT, Devilee P & Hes FJ (2009), Deep Sequencing to Reveal New Variants in Pooled DNA Samples, Human Mutation 30(12): 1703-1712.
- Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH & Ginjaar IB (2009), Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis, Neuromuscular Disorders 19(6): 383-390.
- de Snoo FA, Bishop DT, Bergman W, van Leeuwen I, van der Drift C, van Nieuwpoort FA, Out-Luiting CJ, Vasen HF, ter Huurne JAC, Frants RR, Willemze R, Breuning MH & Gruis NA (2008), Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families, Clinical Cancer Research 14(21).
- Gijsbers ACJ, Bijlsma EK, Weiss MM, Bakker E, Breuning MH, Hoffer MJV & Ruivenkamp CAL (2008), A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation, European Journal of Medical Genetics 51(5).
- de Snoo FA, Hottenga JJ, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, ter Huurne JAC, Frants RR, Willemze R, Breuning MH, Trent JM & Gruis NA (2008), Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families, European Journal of Human Genetics 16(9).
- Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HFA, Breuning MH & Tops CMJ (2008), Somatic APC mosaicism: an underestimated cause of polyposis coli, Gut 57(1).
- de Snoo FA, Rledijk SR, van Mil AM, Bergman W, ter Huurne JAC, Timman R, Bertina W, Gruis NA, Vasen HFA, van Haeringen A, Breuning MH & Tibben A (2008), Genetic testing in familial melanoma: uptake and implications, Psycho-Oncology 17(8).
- Lesnik Oberstein SAJ, Maat-Schieman MLC, Boon EMJ, Haan J, Breuning MH & van Duinen SG (2008), No vessel wall abnormalities in a human foetus with a NOTCH3 mutation, Acta Neuropathologica 115(3).
- Breuning MH (2008), The genome: you gain some, you lose some, European Journal of Human Genetics 16(6).
- Gijsbers ACJ, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E & Ruivenkamp CAL (2008), Identification of copy number variants associated with BPES-like phenotypes, Human Genetics 124(5).
- Aten E, White SJ, Kalf ME, Vossen RHAM, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MHB & den Dunnen T (2008), Methods to detect CNVs in the human genome, Cytogenetic and Genome Research 123(1-4): 313-321.
- Leonhard WN, Roelfsema JH, Leeuwen ISLV, Breuning MH & Peters DJM (2008), Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice, BMC Biotechnology 8.
- Swinkels DW, Venselaar H, Wiegerinck ET, Bakker E, Joosten I, Jaspers CAJJ, Vasinel WL & Breuning MH (2008), A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients, Blood Cells, Molecules and Diseases 40(3).
- de Snoo FA, Kroon MW, Bergman W, ter Huurne JAC, Houwing-Duistermaat JJ, van Mourik L, Snels DGCTM, Breuning MH, Willemze R, Frants RR & Gruis NA (2007), From sporadic atypical nevi to familial melanoma: Risk analysis for melanoma in sporadic atypical nevus patients, Journal of The American Academy of Dermatology 56(5).
- Kant SG, Grote F, de Ru MH, Oostdijk W, Zonderland HM, Breuning MH & Wit JM (2007), Radiographic evaluation of children with growth disorders, Hormone Research 68(6).
- Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJB, Tanke HJ, Breuning MH & Szuhai K (2007), Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH, American Journal of Medical Genetics Part A 143A(6).
- van Dijk BAC, Kemna EHJM, Tjalsma H, Klaver SM, Wiegerinck ETG, Goossens JP, Slee PHTJ, Breuning MH & Swinkels DW (2007), Effect of the new HJV-L165X mutation on penetrance of HFE, Blood 109(12).
- Kant SG, Kriek M, Walenkamp MJE, Hansson KBM, van Rhijn A, Clayton-Smith J, Wit JM & Breuning MH (2007), Tall stature and duplication of the insulin-like growth factor I receptor gene.
- Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E & Peters DJM (2007), Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice, Human Molecular Genetics 16(24).
- Hassane S, Claij N, Lantinga-van Leeuwen IS, Van Munsteren JC, Van Lent N, Hanemaaijer R, Breuning MH, Peters DJM & DeRuiter MC (2007), Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse modelle, Arteriosclerosis, Thrombosis, and Vascular Biology 27(10).
- Ruivenkamp C, Gijsbers A, Ariyurek Y, van Haeringen A, Bijlsma E, Knijnenburg J, Szuhai K, den Dunnen J & Breuning M (2007), SNP arrays to identify loci involved in mental retardation, Chromosome Research 15.
- Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH & Harris PC (2007), Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3, Human Genetics 121(5).
- White SJ, Vissers LELM, van Kessel AG, de Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van de Vosse E, Breuning MH, Brunner HG, den Dunnen JT & Veltman JA (2007), Variation of CNV distribution in five different ethnic populations, Cytogenetic and Genome Research 118(1).
- Dauwerse JG, de Vries BBA, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH & Peters DJM (2007), A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome, European Journal of Human Genetics 15(7).
- Walenkamp MJE, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM & Romijn JA (2007), Growth hormone secretion and immunological function of a male patient with a homozygous STATSb mutation, European Journal of Endocrinology 156(2).
- Liem MK, van der Grond J, Haan J, van den Boom R, Ferrari MD, Knaap YM, Breuning MH, van Buchem MA, Middelkoop HAM & Oberstein SAJL (2007), Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL, Stroke 38(3).
- Nielsen M, Franken PF, Weiss MM, van Kranen HJ, Wijnen JT, Morreau H, Breuning MH, Tops CMJ, Fodde R, Vasen HFA & Hes FJ (2007), Bi-allelic MUTYH mutations are found in a significant number of Dutch MUTYH-associated polyposis coli (MAP) patients, but not in patients with between 1-10 polyps or HNPCC, European Journal of Gastroenterology and Hepatology 19(10).
- Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HFA, Bakker E, Tops CMJ & Weiss MM (2007), Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review, European Journal of Human Genetics 15(10).
- Maat-Schieman M, Roos R, Losekoot M, Dorsman J, Welling-Graafland C, Hegeman-Kleinn I, Broeyer F, Breuning M & van Duinen S (2007), Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease, Brain Pathology 17(1).
- Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CMJ & Vasen HFA (2007), Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis, Clinical Genetics 71(5).
- Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A & Peters DJM (2007), Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300, Journal of Medical Genetics 44(5).
- Lantinga-van Leeuwen IS, Leonhard WN, van de Wal A, Breuning MH, Verbeek S, de Heer E & Peters DJM (2006), Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells, genesis 44(5).
- Walenkamp MJE, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M & Wit JM (2006), A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor, Journal of Clinical Endocrinology and Metabolism 91(8).
- Hendriks, Y.M.C.; Jagmohan-Changur, S.; Klift, H.M. van der; Morreau, H.; Puijenbroek, M. van; Tops, C.; Os, T. van; Wagner, A.; Ausems, M.G.F.M.; Gomez, E.; Breuning, M.H.; Brocker-Vriends, A.H.J.T.; Vasen, H.F.A. & Wijnen, J.T. (2006), Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome), Gastroenterology 130(2).
- White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers ALJ, Lalic T, Janson AAM, Ginjaar HB, Breuning MH & den Dunnen JT (2006), Duplications in the DMD gene, Human Mutation 27(9).
- Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH & Rosenberg C (2006), A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance, Human Genetics 120(1).
- Vidarsdottir S, Walenkamp MJE, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM & Romijn JA (2006), Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation, Journal of Clinical Endocrinology and Metabolism 91(9).
- Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJB, den Dunnen JT & Breuning MH (2006), Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications, European Journal of Human Genetics 14(2).
- Hendriks, Y.M.C.; Jong, A.E. de; Morreau, H.; Tops, C.M.J.; Vasen, H.F.; Wijnen, J.T.; Breuning, M.H. & Brocker-Vriends, A.H.J.T. (2006), Diagnostic approach and management of Lynch syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A guide for clinicians, CA: A Cancer Journal for Clinicians 56(4).
- Oberstein SAJL, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH & Hennekam RCM (2006), Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase, American Journal of Human Genetics 79(3).
- van Dijk S, Otten W, Timmermans DRM, van Asperen CJ, Meijers-Heijboer H, Tibben A, Breuning MH & Kievit J (2005), What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer, Genetics in Medicine 7(4).
- Kant SG, Wit JM & Breuning MH (2005), Genetic analysis of tall stature, Hormone Research 64(3).
- Breuning MH (2005), From chromosomes to DNA, a revolution in prenatal diagnosis, European Journal of Human Genetics 13(5).
- Vink GR, van Asperen CJ, Devilee P, Breuning MH & Bakker E (2005), Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines, European Journal of Human Genetics 13(5).
- Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH & Peters DJM (2005), Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions, European Journal of Human Genetics 13(5).
- Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ & den Dunnen JT (2005), Deletion and duplication screening in the DMD gene using MLPA, European Journal of Human Genetics 13(11).
- Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH & Peters DJM (2005), Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD), Human Genetics 118(2): 185-206.
- Walenkamp MJE, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JAPM, Breuning MB, Romijn JA & Wit JM (2005), Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation, Journal of Clinical Endocrinology and Metabolism 90(5).
- van de Kamp JM, van der Smagt JJ, Bos CFA, van Haeringen A, Hogendoorn PCW & Breuning MH (2005), Bifurcation of the femur with tibial agenesis and additional anomalies, American Journal of Medical Genetics Part A 138A(1).
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJB, Breuning MH, Hennekam RC & Peters DJM (2005), Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease, American Journal of Human Genetics 76(4).
- Vink, G.R.; White, S.J.; Gabelic, S.; Hogendoorn, P.C.W.; Breuning, M.H. & Bakker, E. (2005), Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations, European Journal of Human Genetics 13(4).
- Le NH, van der Wal A, van der Bent P, Lantinga-van Leeuwen IS, Breuning MH, van Dam H, de Heer E & Peters DJM (2005), Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease, Journal of the American Society of Nephrology 16(9).
- Scheffers MS, van der Bent P, van de Wal A, van Eendenburg J, Breuning MH, de Heer E & Peters DJM (2004), Altered distribution and co-localization of polycystin-2 with polycystin-1 in MDCK cells after wounding stress, Experimental Cell Research 292(1).
- van Dijk S, van Asperen CJ, Jacobi CE, Vink GR, Tibben A, Breuning MH & Otten W (2004), Variants of uncertain clinical significance as a result of BRCA1/2 testing: Impact of an ambiguous breast cancer risk message, Genetic Testing 8(3).
- Persu A, Duyme M, Pirson Y, Lens XM, Messiaen T, Breuning MH, Chauveau D, Levy M, Grunfeld JP & Devuyst O (2004), Comparison between siblings and twins supports a role for modifier genes in ADPKD, Kidney International 66(6).
- White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH & den Dunnen JT (2004), Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses, Human Mutation 24(1).
- Wessels MW, Catsman-Berrevoets CE, Mancini GMS, Breuning MH, Hoogeboom JJM, Stroink H, Frohn-Mulder I, Coucke PJ, De Paepe A, Niermeijer MF & Willems PJ (2004), Three new families with arterial tortuosity syndrome, American Journal of Medical Genetics Part A 131A(2).
- van Dijk S, Otten W, van Asperen CJ, Timmermans DRM, Tibben A, Zoeteweij MW, Silberg S, Breuning MH & Kievit J (2004), Feeling at risk: How women interpret their familial breast cancer risk, American Journal of Medical Genetics Part A 131A(1).
- Le NH, van der Bent P, Huls G, van de Wetering M, Loghman-Adham M, Ong ACM, Calvet JP, Clevers H, Breuning MH, van Dam H & Peters DJM (2004), Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected, Journal of Biological Chemistry 279(26).
- Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, DeRuiter MC, Breuning MH, de Heer E & Peters DJM (2004), Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease, Human Molecular Genetics 13(24).
- de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BCJ, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CTS, Breuning MH & Wit JM (2004), Genotype-phenotype correlation in patients suspected of having Sotos syndrome, Hormone Research 62(4).
- Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KBM, Nijhuis JV, Bakker B, van Ommen GJB, den Dunnen JT & Breuning MH (2004), Genomic imbalances in mental retardation, Journal of Medical Genetics 41(4).
- Hendriks, Y.M.C.; Wagner, A.; Morreau, H.; Menko, F.; Stormorken, A.; Quehenberger, F.; Sandkuijl, L.; Moller, P.; Genuardi, M.; Houwelingen, H. van; Tops, C.; Puijenbroek, M. van; Verkuijlen, P.; Kenter, G.; Mil, A. van; Meijers-Heijboer, H.; Tan, G.B.; Breuning, M.H.; Fodde, R.; Wijnen, J.T.; Brocker-Vriends, A.H.J.T. & Vasen, H. (2004), Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance, Gastroenterology 127(1).
- van Asperen CJ, Jonker MA, Jacobi CE, van Diemen-Homan JEM, Bakker E, Breuning MH, van Houwelingen JC & de Bock GH (2004), Risk estimation for healthy women from breast cancer families: New insights and new strategies, Cancer Epidemiology, Biomarkers and Prevention 13(1).
- Drenth JPH, Tahvanainen E, Morsche RHMT, Tahvanainen P, Kaariainen H, Hockerstedt K, van de Kamp JM, Breuning MH & Jansen JBMJ (2004), Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease, Hepatology 39(4).
- Hendriks, Y.; Franken, P.; Dierssen, J.W.; Leeuw, J. de; Wijnen, J.; Dreef, E.; Tops, C.; Breuning, M.; Brocker-Vriends, A.; Vasen, H.; Fodde, R. & Morreau, H. (2003), Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors, The American Journal of Pathology 162(2).
- van Dijk MA, Breuning MH, Duiser R, van Es LA & Westendorp RGJ (2003), No effect of enalapril on progression in autosomal dominant polycystic kidney disease, Nephrology Dialysis Transplantation 18(11).
- Magistroni R, He N, Wang KR, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D & Pei Y (2003), Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease, Journal of the American Society of Nephrology 14(5).
- Helderman-van den Enden ATJM, Ginjaar HB, Kneppers ALJ, Bakker E, Breuning MH & de Visser A (2003), Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures, Neuromuscular Disorders 13(4).
- White SJ, Sterrenburg E, van Ommen GJB, den Dunnen JT & Breuning MH (2003), An alternative to FISH: detecting deletion and duplication carriers within 24 hours, Journal of Medical Genetics 40(10).
- van Dijk S, Otten W, Zoeteweij MW, Timmermans DRM, van Asperen CJ, Breuning MH, Tollenaar RAEM & Kievit J (2003), Genetic counselling and the intention to undergo prophylactic mastectomy: Effects of a breast cancer risk assessment, British Journal of Cancer 88(11).
- Timman R, Maat-Kievit A, Brouwer-DudokdeWit C, Zoeteweij M, Breuning MH & Tibben A (2003), Testing the test - Why pursue a better test for Huntington disease?, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 117B(1).
- Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RCM & Peters DJM (2003), Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome, Human Molecular Genetics 12(4).
- Kant SG, Wit JM & Breuning MH (2003), Genetic analysis of short stature, Hormone Research 60(4).
- Oberstein SAJL, van den Boom R, Middelkoop HAM, Ferrari MD, Knaap YM, van Houwelingen HC, Breuning MH, van Buchem MA & Haan J (2003), Incipient CADASIL, Archives of Neurology -Chigago- 60(5).
- Oberstein SAJL, Jukema JW, van Duinen SG, Macfarlane PW, van Howelingen HC, Breuning MH, Ferrari MD & Haan J (2003), Myocardial infarction in cerebral autosomal dominant Arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Medicine 82(4).
- Oberstein SAJL, van Duinen SG, van den Boom R, Maat-Schieman MLC, van Buchem MA, van Houwelingen HC, Hegeman-Kleinn IM, Ferrari MD, Breuning MH & Haan J (2003), Evaluation of diagnostic NOTCH3 immunostaining in CADASIL, Acta Neuropathologica 106(2).
- Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E & Peters DJM (2002), Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells, Human Molecular Genetics 11(1).
- Dauwerse JG, de Die-Smulders CEM, Bakker E, Breuning MH & Peters DJM (2002), Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect, Journal of Medical Genetics 39(9).
- Hendriks Y, Wagner A, Vasen H, Menko F, Stormorken A, Moller P, Genuardi M, Sandkuijl L, van Houwelingen H, Tops C, Morreau H, de Leeuw W, Meijers-Heijboer H, Breuning M, Fodde R, Wijnen J & Brocker-Vriends A (2002), Phenotype of MSH6 versus MLH1 and MSH2: Lower penetrance and higher age of onset., American Journal of Human Genetics 71(4).
- Van Asperen CJ, Jonker MA, Van Diemen-Homan JE, Bakker E, Breuning MH, Van Houwelingen JC & De Bock GH (2002), Breast cancer families; Risk estimation for clinical practice., American Journal of Human Genetics 71(4).
- White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJB, Breuning MH & den Dunnen JT (2002), Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization, American Journal of Human Genetics 71(2).
- Maat-Kievit A, Losekoot M, Zwinderman K, Vlis MVVD, Belfroid R, Lopez F, van Ommen GJ, Breuning M & Roos R (2002), Predictability of age at onset in Huntington disease in the Dutch population, Medicine 81(4).
- Njajou OT, de Jong G, Berghuis B, Vaessen N, Snijders PJLA, Goossens JP, Wilson JHP, Breuning MH, Oostra BA, Heutink P, Sandkuijl LA & van Duijn CM (2002), Dominant hemochromatosis due to N144H mutation of SLC11A3: Clinical and biological characteristics, Blood Cells, Molecules and Diseases 29(3).
- van Asperen CJ, van Dijk S, Zoeteweij MW, Timmermans DRM, de Bock GH, Meijers-Heijboer EJ, Niermeijer MF, Breuning MH, Kievit J & Otten W (2002), What do women really want to know? Motives for attending familial breast cancer clinics, Journal of Medical Genetics 39(6).
- Dauwerse JG, Bouman K, van Essen AJ, van der Hout AH, Kolsters G, Breuning MH & Peters DJM (2002), Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome, Journal of Medical Genetics 39(2).
- de Vries BBA, Breedveld GJ, Deelen WH, Niermeijer MF, Heutink P, de Vries BBA & Breuning MH (2002), Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23, American Journal of Medical Genetics 111(4).
- van der Reijden BA, Simons A, Luiten E, van der Poel SC, Hogenbirk PE, Tonnissen E, Valk PJM, Lowenberg B, De Greef GE, Breuning MH & Jansen JH (2002), Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion, British Journal of Haematology 118(2).
- Peters DJM & Breuning MH (2001), Autosomal dominant polycystic kidney disease: modification of disease progression, Lancet 358(9291).
- Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JWF, Breuning MH, Snijders PJLM, Rutten WPF, Sandkuijl LA, Oostra BA, van Duijn CM & Heutink P (2001), A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nature Genetics 28(3).
- Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJF, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AHJT, van der Meer C, Lindhout D, Vasen HFA, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J & Fodde R (2001), Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree, Journal of Medical Genetics 38(5).
- van der Westerlaken L, Verburg H, Naaktgeboren N, Breuning M & Helmerhorst F (2001), Invasive prenatal diagnosis after intracytoplasmic sperm injection, Fertility and Sterility 75(6).
- Peters DJM, Ariyurek Y, van Dijk M & Breuning MH (2001), Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE, European Journal of Human Genetics 9(12).
- Oberstein SAJL, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, Ferrari MD, Breuning MH & Haan J (2001), Cerebral microbleeds in CADASIL, Neurology 57(6).
- Maat-Kievit A, Helderman-van den Enden P, Losekoot M, de Knijff P, Belfroid R, Vegter-van der Vlis M, Roos R & Breuning M (2001), Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease, American Journal of Medical Genetics 105(8).
- van der Smagt JJ, Beverstock GC, Breuning MH, Kanhai HHH & Vandenbussche FPHA (2000), Assessment of prenatal karyotypes.
- Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millan JL, Bogdanova N, Coto E, von Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M & Ravine D (2000), Location of mutations within the PKD2 gene influences clinical outcome.
- Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RCM, Breuning MH & Peters DJM (2000), Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3).
- van Dijk MA, Breuning MH, Peters DJM & Chang PC (2000), The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease.
- Scheffers MS, van der Bent P, Prins F, Spruit L, Breuning MH, Litvinov SV, de Heer E & Peters DJM (2000), Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells, Human Molecular Genetics 9(18).
- Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH & Rosenberg C (2000), Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.
- Pirc-Danoewinata H, Dauwerse HG, Konig M, Chudoba I, Mitterbauer M, Jager U, Breuning MH & Haas OA (2000), CBFB/MYHII fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16.
- Breuning MH, Oranje AP, Langemeijer RATM, Hovius SER, Diepstraten AFM, den Hollander JC, Baumgartner N, Dwek JR, Sommer A & Toriello H (2000), Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.
- Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM & Breuning MH (2000), Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
- Bergen AAB, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB & de Jong PTVM (2000), Mutations in ABCC6 cause pseudoxanthoma elasticum.
- Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH & Peters DJM (1999), Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
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