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ArticlesPeer ReviewedFull Text
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Author / Creator:Albers, Cornelis A ; Paul, Dirk S ; Schulze, Harald ; Freson, Kathleen ; Stephens, Jonathan C ; Smethurst, Peter A ; Jolley, Jennifer D ; Cvejic, Ana ; Kostadima, Myrto ; Bertone, Paul ; Breuning, Martijn H ; Debili, Najet ; Deloukas, Panos ; Favier, Rémi ; Fiedler, Janine ; Hobbs, Catherine M ; Huang, Ni ; Hurles, Matthew E ; Kiddle, Graham ; Krapels, Ingrid ; Nurden, Paquita ; Ruivenkamp, Claudia A L ; Sambrook, Jennifer G ; Smith, Kenneth ; Stemple, Derek L ; Strauss, Gabriele ; Thys, Chantal ; van Geet, Chris ; Newbury-Ecob, Ruth ; Ouwehand, Willem H ; Ghevaert, Cedric
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.435-439
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Author / Creator:Santen, Gijs W E ; Aten, Emmelien ; Sun, Yu ; Almomani, Rowida ; Gilissen, Christian ; Nielsen, Maartje ; Kant, Sarina G ; Snoeck, Irina N ; Peeters, Els A J ; Hilhorst-Hofstee, Yvonne ; Wessels, Marja W ; den Hollander, Nicolette S ; Ruivenkamp, Claudia A L ; van Ommen, Gert-Jan B ; Breuning, Martijn H ; den Dunnen, Johan T ; van Haeringen, Arie ; Kriek, Marjolein
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.379-380
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Author / Creator:Dauwerse, Johannes G ; Dixon, Jill ; Seland, Saskia ; Ruivenkamp, Claudia A L ; van Haeringen, Arie ; Hoefsloot, Lies H ; Peters, Dorien J M ; Boers, Agnes Clement-de ; Daumer-Haas, Cornelia ; Maiwald, Robert ; Zweier, Christiane ; Kerr, Bronwyn ; Cobo, Ana M ; Toral, Joaquín F ; Hoogeboom, A Jeannette M ; Lohmann, Dietmar R ; Hehr, Ute ; Dixon, Michael J ; Breuning, Martijn H ; Wieczorek, Dagmar
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-01, Vol.43 (1), p.20-22
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ArticlesPeer ReviewedFull Text
Cyst expansion and regression in a mouse model of polycystic kidney disease
Author / Creator:Happé, Hester ; van der Wal, Annemieke M. ; Salvatori, Daniela C.F. ; Leonhard, Wouter N. ; Breuning, Martijn H. ; de Heer, Emile ; Peters, Dorien J.M.
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2013-06, Vol.83 (6), p.1099-1108
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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers
Author / Creator:Yiu, Kai Hang ; Atsma, Douwe E. ; Delgado, Victoria ; Ng, Arnold C. T. ; Witkowski, Tomasz G. ; Ewe, See Hooi ; Auger, Dominique ; Holman, Eduard R. ; van Mil, Anneke M. ; Breuning, Martijn H. ; Tse, Hung Fat ; Bax, Jeroen J. ; Schalij, Martin J. ; Marsan, Nina Ajmone
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-05, Vol.7 (5), p.e36115-e36115
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ArticlesPeer ReviewedFull Text
The clinical spectrum of complete FBN1 allele deletions
Author / Creator:Hilhorst-Hofstee, Yvonne ; Hamel, Ben CJ ; Verheij, Joke BGM ; Rijlaarsdam, Marry EB ; Mancini, Grazia MS ; Cobben, Jan M ; Giroth, Cindy ; Ruivenkamp, Claudia AL ; Hansson, Kerstin BM ; Timmermans, Janneke ; Moll, Henriette A ; Breuning, Martijn H ; Pals, Gerard
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.247-252
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ArticlesPeer ReviewedFull Text
Copy Number Variants in Short Children Born Small for Gestational Age
Author / Creator:Wit, Jan M. ; van Duyvenvoorde, Hermine A. ; van Klinken, Jan B. ; Caliebe, Janina ; Bosch, Cathy A.J. ; Lui, Julian C. ; Gijsbers, Antoinet C.J. ; Bakker, Egbert ; Breuning, Martijn H. ; Oostdijk, Wilma ; Losekoot, Monique ; Baron, Jeffrey ; Binder, Gerhard ; Ranke, Michael B. ; Ruivenkamp, Claudia A.L.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2014-01, Vol.82 (5), p.310-318
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ArticlesPeer ReviewedFull Text
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
Author / Creator:White, Stefan J. ; Vink, Geraldine R. ; Kriek, Marjolein ; Wuyts, Wim ; Schouten, Jan ; Bakker, Bert ; Breuning, Martijn H. ; Dunnen, Johan T. den
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-07, Vol.24 (1), p.86-92
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ArticlesPeer ReviewedFull Text
Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension
Author / Creator:Hassane, Sabrine ; Claij, Nanna ; Jodar, Martine ; Dedman, Alexandra ; Lauritzen, Inger ; Duprat, Fabrice ; Koenderman, Jorine S ; van der Wal, Annemieke ; Breuning, Martijn H ; de Heer, Emile ; Honore, Eric ; DeRuiter, Marco C ; Peters, Dorien J M
Publisher:New York: Elsevier Inc
Journal title:Laboratory investigation, 2011-01, Vol.91 (1), p.24-32
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ArticlesPeer ReviewedFull Text
Impact of prenatal technologies on the sex ratio in India: an overview
Author / Creator:Madan, Kamlesh ; Breuning, Martijn H.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-06, Vol.16 (6), p.425-432
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ArticlesPeer ReviewedFull Text
Comparison between siblings and twins supports a role for modifier genes in ADPKD
Author / Creator:Persu, Alexandre ; Duyme, Michel ; Pirson, Yves ; Lens, Xosé M. ; Messiaen, Thierry ; Breuning, Martijn H. ; Chauveau, Dominique ; Levy, Micheline ; Grünfeld, Jean-Pierre ; Devuyst, Olivier
Publisher:New York, NY: Elsevier Inc
Journal title:Kidney international, 2004-12, Vol.66 (6), p.2132-2136
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ArticlesPeer ReviewedFull Text
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Author / Creator:Helderman-van den Enden, Apollonia T J M ; Madan, Kamlesh ; Breuning, Martijn H ; van der Hout, Annemieke H ; Bakker, Egbert ; de Die-Smulders, Christine E M ; Ginjaar, Hendrika B
Journal title:European journal of human genetics : EJHG, 2012-06, Vol.21 (1), p.21-26
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ArticlesPeer ReviewedFull Text
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Author / Creator:Haer-Wigman, Lonneke ; van Zelst-Stams, Wendy AG ; Pfundt, Rolph ; van den Born, L Ingeborgh ; Klaver, Caroline CW ; Verheij, Joke BGM ; Hoyng, Carel B ; Breuning, Martijn H ; Boon, Camiel JF ; Kievit, Anneke J ; Verhoeven, Virginie JM ; Pott, Jan WR ; Sallevelt, Suzanne CEH ; van Hagen, Johanna M ; Plomp, Astrid S ; Kroes, Hester Y ; Lelieveld, Stefan H ; Hehir-Kwa, Jayne Y ; Castelein, Steven ; Nelen, Marcel ; Scheffer, Hans ; Lugtenberg, Dorien ; Cremers, Frans PM ; Hoefsloot, Lies ; Yntema, Helger G
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.591-599
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ArticlesPeer ReviewedFull Text
Autosomal dominant polycystic kidney disease: modification of disease progression
Author / Creator:Peters, Dorien JM ; Breuning, Martijn H
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2001-10, Vol.358 (9291), p.1439-1444
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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Author / Creator:Sun, Yu ; Bak, Beata ; Schoenmakers, Nadia ; van Trotsenburg, A S Paul ; Oostdijk, Wilma ; Voshol, Peter ; Cambridge, Emma ; White, Jacqueline K ; le Tissier, Paul ; Gharavy, S Neda Mousavy ; Martinez-Barbera, Juan P ; Stokvis-Brantsma, Wilhelmina H ; Vulsma, Thomas ; Kempers, Marlies J ; Persani, Luca ; Campi, Irene ; Bonomi, Marco ; Beck-Peccoz, Paolo ; Zhu, Hongdong ; Davis, Timothy M E ; Hokken-Koelega, Anita C S ; Del Blanco, Daria Gorbenko ; Rangasami, Jayanti J ; Ruivenkamp, Claudia A L ; Laros, Jeroen F J ; Kriek, Marjolein ; Kant, Sarina G ; Bosch, Cathy A J ; Biermasz, Nienke R ; Appelman-Dijkstra, Natasha M ; Corssmit, Eleonora P ; Hovens, Guido C J ; Pereira, Alberto M ; den Dunnen, Johan T ; Wade, Michael G ; Breuning, Martijn H ; Hennekam, Raoul C ; Chatterjee, Krishna ; Dattani, Mehul T ; Wit, Jan M ; Bernard, Daniel J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-12, Vol.44 (12), p.1375-1381
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ArticlesPeer ReviewedFull Text
Case 26-2011: A boy with a complex kidney cyst
Author / Creator:Breuning, Martijn H
Publisher:United States
Journal title:The New England journal of medicine, 2012-01, Vol.366 (1), p.94; author reply 94
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Response to Dalal et al
Author / Creator:Madan, Kamlesh ; Breuning, Martijn H.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-01, Vol.17 (1), p.89-90
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Copy number variants in patients with short stature
Author / Creator:van Duyvenvoorde, Hermine A ; Lui, Julian C ; Kant, Sarina G ; Oostdijk, Wilma ; Gijsbers, Antoinet CJ ; Hoffer, Mariëtte JV ; Karperien, Marcel ; Walenkamp, Marie JE ; Noordam, Cees ; Voorhoeve, Paul G ; Mericq, Verónica ; Pereira, Alberto M ; Claahsen-van de Grinten, Hedi L ; van Gool, Sandy A ; Breuning, Martijn H ; Losekoot, Monique ; Baron, Jeffrey ; Ruivenkamp, Claudia AL ; Wit, Jan M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.602-609
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Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice
Author / Creator:Leonhard, Wouter N ; Roelfsema, Jeroen H ; Lantinga-van Leeuwen, Irma S ; Breuning, Martijn H ; Peters, Dorien JM
Publisher:England: BioMed Central Ltd
Journal title:BMC biotechnology, 2008-02, Vol.8 (1), p.18-18, Article 18
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LRP5 variants may contribute to ADPKD
Author / Creator:Cnossen, Wybrich R ; te Morsche, René HM ; Hoischen, Alexander ; Gilissen, Christian ; Venselaar, Hanka ; Mehdi, Soufi ; Bergmann, Carsten ; Losekoot, Monique ; Breuning, Martijn H ; Peters, Dorien JM ; Veltman, Joris A ; Drenth, Joost PH
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.237-242
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

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Cyst expansion and regression in a mouse model of polycystic kidney disease

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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

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The clinical spectrum of complete FBN1 allele deletions

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Copy Number Variants in Short Children Born Small for Gestational Age

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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

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Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension

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Impact of prenatal technologies on the sex ratio in India: an overview

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Comparison between siblings and twins supports a role for modifier genes in ADPKD

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An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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Autosomal dominant polycystic kidney disease: modification of disease progression

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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

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Case 26-2011: A boy with a complex kidney cyst

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Response to Dalal et al

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Copy number variants in patients with short stature

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Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice

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LRP5 variants may contribute to ADPKD

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