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Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
Published in:
2005
By:
- Willemsen, Michel A. A. P.;
- Breedveld, Guido J.;
- Wouda, Siep;
- Otten, Barto J.;
- Yntema, Jan L.;
- Lammens, Martin;
- De Vries, Bert B. A.
Publication type:
journal article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
By:
- Vos, Niels;
- Haghshenas, Sadegheh;
- van der Laan, Liselot;
- Russel, Perle K. M.;
- Rooney, Kathleen;
- Levy, Michael A.;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Maas, Saskia M.;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.;
- Pfundt, Rolph;
- Elting, Mariet W.;
- van Hagen, Johanna M.;
- Verbeek, Nienke E.;
- Jongmans, Marjolijn C. J.;
- Lakeman, Phillis;
- Rumping, Lynne;
- Bosch, Danielle G. M.
Publication type:
Article
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Published in:
Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8
By:
- Koolen, David A.;
- Herbergs, Jos;
- Veltman, Joris A.;
- Pfundt, Rolph;
- van Bokhoven, Hans;
- Stroink, Hans;
- Sistermans, Erik A.;
- Brunner, Han G.;
- van Kessel, Ad Geurts;
- de Vries, Bert B. A.
Publication type:
Article
The Human Phenotype Ontology in 2017.
Published in:
Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
By:
- Köhler, Sebastian;
- Vasilevsky, Nicole A.;
- Engelstad, Mark;
- Foster, Erin;
- McMurry, Julie;
- Aymé, Ségolène;
- Baynam, Gareth;
- Bello, Susan M.;
- Boerkoel, Cornelius F.;
- Boycott, Kym M.;
- Brudno, Michael;
- Buske, Orion J.;
- Chinnery, Patrick F.;
- Cipriani, Valentina;
- Connell, Laureen E.;
- Dawkins, Hugh J. S.;
- DeMare, Laura E.;
- Devereau, Andrew D.;
- de Vries, Bert B. A.;
- Firth, Helen V.
Publication type:
Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
By:
- Gillentine, Madelyn A.;
- Wang, Tianyun;
- Hoekzema, Kendra;
- Rosenfeld, Jill;
- Liu, Pengfei;
- Guo, Hui;
- Kim, Chang N.;
- De Vries, Bert B. A.;
- Vissers, Lisenka E. L. M.;
- Nordenskjold, Magnus;
- Kvarnung, Malin;
- Lindstrand, Anna;
- Nordgren, Ann;
- Gecz, Jozef;
- Iascone, Maria;
- Cereda, Anna;
- Scatigno, Agnese;
- Maitz, Silvia;
- Zanni, Ginevra;
- Bertini, Enrico
Publication type:
Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
By:
- Gillentine, Madelyn A.;
- Wang, Tianyun;
- Hoekzema, Kendra;
- Rosenfeld, Jill;
- Liu, Pengfei;
- Guo, Hui;
- Kim, Chang N.;
- De Vries, Bert B. A.;
- Vissers, Lisenka E. L. M.;
- Nordenskjold, Magnus;
- Kvarnung, Malin;
- Lindstrand, Anna;
- Nordgren, Ann;
- Gecz, Jozef;
- Iascone, Maria;
- Cereda, Anna;
- Scatigno, Agnese;
- Maitz, Silvia;
- Zanni, Ginevra;
- Bertini, Enrico
Publication type:
Article
Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2346, doi. 10.1002/ajmg.a.63334
By:
- Bouman, Arianne;
- Bouwmeester, Romy N.;
- van Vlimmeren, Leo A.;
- Burger, Pauline;
- Mandel, Jean‐Louis;
- de Vries, Bert B. A.;
- de Kleuver, Marinus;
- Klein, Willemijn M.;
- Geelen, Joyce M.;
- Koolen, David A.
Publication type:
Article
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
By:
- O'Grady, Lauren;
- Schrier Vergano, Samantha A.;
- Hoffman, Trevor L.;
- Sarco, Dean;
- Cherny, Sara;
- Bryant, Emily;
- Schultz‐Rogers, Laura;
- Chung, Wendy K.;
- Sacharow, Stephanie;
- Immken, Ladonna L.;
- Holder, Susan;
- Blackwell, Rebecca R.;
- Buchanan, Catherine;
- Yusupov, Roman;
- Lecoquierre, François;
- Guerrot, Anne‐Marie;
- Rodan, Lance;
- de Vries, Bert B. A.;
- Kamsteeg, Erik Jan;
- Santos Simarro, Fernando
Publication type:
Article
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
By:
- Dingemans, Alexander J. M.;
- Stremmelaar, Diante E.;
- Vissers, Lisenka E. L. M.;
- Jansen, Sandra;
- Nabais Sá, Maria J.;
- an Remortele, Angela v;
- Jonis, Noraly;
- Truijen, Kim;
- van de Ven, Sam;
- Ewals, Jeroen;
- Verbruggen, Michel;
- Koolen, David A.;
- Brunner, Han G.;
- Eichler, Evan E.;
- Gecz, Jozef;
- de Vries, Bert B. A.
Publication type:
Article
Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.
Published in:
2017
By:
- van Amen‐Hellebrekers, Claudia J. M.;
- Jansen, Sandra;
- Stegmann, Alexander P. A.;
- Stevens, Servi J. C.;
- Pfundt, Rolph;
- de Vries, Bert B. A.
Publication type:
Other
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940
By:
- Fergelot, Patricia;
- Van Belzen, Martine;
- Van Gils, Julien;
- Afenjar, Alexandra;
- Armour, Christine M.;
- Arveiler, Benoit;
- Beets, Lex;
- Burglen, Lydie;
- Busa, Tiffany;
- Collet, Marie;
- Deforges, Julie;
- de Vries, Bert B. A.;
- Dominguez Garrido, Elena;
- Dorison, Nathalie;
- Dupont, Juliette;
- Francannet, Christine;
- Garciá‐Minaúr, Sixto;
- Gabau Vila, Elisabeth;
- Gebre‐Medhin, Samuel;
- Gener Querol, Blanca
Publication type:
Article
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 516, doi. 10.1038/ng.2929
By:
- Gómez-Herreros, Fernando;
- Schuurs-Hoeijmakers, Janneke H M;
- McCormack, Mark;
- Greally, Marie T;
- Rulten, Stuart;
- Romero-Granados, Rocío;
- Counihan, Timothy J;
- Chaila, Elijah;
- Conroy, Judith;
- Ennis, Sean;
- Delanty, Norman;
- Cortés-Ledesma, Felipe;
- de Brouwer, Arjan P M;
- Cavalleri, Gianpiero L;
- El-Khamisy, Sherif F;
- de Vries, Bert B A;
- Caldecott, Keith W
Publication type:
Article
A de novo paradigm for mental retardation.
Published in:
Nature Genetics, 2010, v. 42, n. 12, p. 1109, doi. 10.1038/ng.712
By:
- Vissers, Lisenka E. L. M.;
- de Ligt, Joep;
- Gilissen, Christian;
- Janssen, Irene;
- Steehouwer, Marloes;
- de Vries, Petra;
- van Lier, Bart;
- Arts, Peer;
- Wieskamp, Nienke;
- del Rosario, Marisol;
- van Bon, Bregje W. M.;
- Hoischen, Alexander;
- de Vries, Bert B. A.;
- Brunner, Han G.;
- Veltman, Joris A.
Publication type:
Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Published in:
Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
By:
- Koolen, David A.;
- Vissers, Lisenka E. L. M.;
- Pfundt, Rolph;
- de Leeuw, Nicole;
- Knight, Samantha J. L.;
- Regan, Regina;
- Kooy, R. Frank;
- Reyniers, Edwin;
- Romano, Corrado;
- Fichera, Marco;
- Schinzel, Albert;
- Baumer, Alessandra;
- Anderlid, Britt-Marie;
- Schoumans, Jacqueline;
- Knoers, Nine V.;
- van Kessel, Ad Geurts;
- Sistermans, Erik A.;
- Veltman, Joris A.;
- Brunner, Han G.;
- de Vries, Bert B. A.
Publication type:
Article
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 955, doi. 10.1038/ng1407
By:
- Vissers, Lisenka E. L. M.;
- van Ravenswaaij, Conny M. A.;
- Admiraal, Ronald;
- Hurst, Jane A.;
- de Vries, Bert B. A.;
- Janssen, Irene M.;
- van der Vliet, Walter A.;
- Huys, Erik H. L. P. G.;
- de Jong, Pieter J.;
- Hamel, Ben C. J.;
- Schoenmakers, Eric F. P. M.;
- Brunner, Han G.;
- Veltman, Joris A.;
- van Kessel, Ad Geurts
Publication type:
Article
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome.
Published in:
Nature Genetics, 2002, v. 32, n. 4, p. 661, doi. 10.1038/ng1040
By:
- Lower, Karen M.;
- Turner, Gillian;
- Kerr, Bronwyn A.;
- Mathews, Katherine D.;
- Shaw, Marie A.;
- Gedeon, Ági K.;
- Schelley, Susan;
- Hoyme, H. Eugene;
- White, Susan M.;
- Delatycki, Martin B.;
- Lampe, Anne K.;
- Clayton-Smith, Jill;
- Stewart, Helen;
- van Ravenswaay, Conny M. A.;
- de Vries, Bert B. A.;
- Cox, Barbara;
- Grompe, Markus;
- Ross, Shelley;
- Thomas, Paul;
- Mulley, John C.
Publication type:
Article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
Published in:
BMC Ophthalmology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2415-14-59
By:
- Bosch, Daniëlle G. M.;
- Boonstra, F. Nienke;
- Willemsen, Michèl A. A. P.;
- Cremers, Frans P. M.;
- de Vries, Bert B. A.
Publication type:
Article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
Published in:
2014
By:
- Bosch, Daniëlle Gm;
- Boonstra, F Nienke;
- Willemsen, Michèl Aap;
- Cremers, Frans Pm;
- de Vries, Bert Ba;
- Bosch, Daniëlle G M;
- Willemsen, Michèl A A P;
- Cremers, Frans P M;
- de Vries, Bert B A
Publication type:
journal article
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006886
By:
- Arbogast, Thomas;
- Iacono, Giovanni;
- Chevalier, Claire;
- Afinowi, Nurudeen O.;
- Houbaert, Xander;
- van Eede, Matthijs C.;
- Laliberte, Christine;
- Birling, Marie-Christine;
- Linda, Katrin;
- Meziane, Hamid;
- Selloum, Mohammed;
- Sorg, Tania;
- Nadif Kasri, Nael;
- Koolen, David A.;
- Stunnenberg, Henk G.;
- Henkelman, R. Mark;
- Kopanitsa, Maksym;
- Humeau, Yann;
- De Vries, Bert B. A.;
- Herault, Yann
Publication type:
Article
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 ( GLUT1) gene, and severe delayed development.
Published in:
Developmental Medicine & Child Neurology, 2007, v. 49, n. 5, p. 380, doi. 10.1111/j.1469-8749.2007.00380.x
By:
- Vermeer, Sascha;
- Koolen, David A.;
- Visser, Gepke;
- Brackel, Hein J. L.;
- van der Burgt, Ineka;
- de Leeuw, Nicole;
- Sistermans, Erik A.;
- Pfundt, Rolph;
- de Vries, Bert b. A.
Publication type:
Article
Fragile X syndrome: diagnosis, treatment and research: Randi Jenssen Hagerman, Paul J Hagerman (eds) John Hopkins University Press, ISBN 0-8018-6843-2 (hardcover) £ 65.50; ISBN 0-8018-6844-0 (paperback) £ 31.00.
Published in:
2003
By:
- de Vries, Bert B. A.
Publication type:
Book Review
The Genetics of Intellectual Disability.
Published in:
Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 231, doi. 10.3390/brainsci13020231
By:
- Jansen, Sandra;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.
Publication type:
Article
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1689, doi. 10.1038/ejhg.2015.42
By:
- Bosch, Daniëlle G M;
- Boonstra, F Nienke;
- Kinoshita, Taroh;
- Jhangiani, Shalini;
- de Ligt, Joep;
- Cremers, Frans P M;
- Lupski, James R;
- Murakami, Yoshiko;
- de Vries, Bert B A
Publication type:
Article
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
By:
- Nowakowska, Beata A;
- de Leeuw, Nicole;
- Ruivenkamp, Claudia AL;
- Sikkema-Raddatz, Birgit;
- Crolla, John A;
- Thoelen, Reinhilde;
- Koopmans, Marije;
- den Hollander, Nicolette;
- van Haeringen, Arie;
- van der Kevie-Kersemaekers, Anne-Marie;
- Pfundt, Rolph;
- Mieloo, Hanneke;
- van Essen, Ton;
- de Vries, Bert B A;
- Green, Andrew;
- Reardon, Willie;
- Fryns, Jean-Pierre;
- Vermeesch, Joris R
Publication type:
Article
Homozygosity mapping in outbred families with mental retardation.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
By:
- Schuurs-Hoeijmakers, Janneke H. M.;
- Hehir-Kwa, Jayne Y.;
- Pfundt, Rolph;
- van Bon, Bregje W. M.;
- de Leeuw, Nicole;
- Kleefstra, Tjitske;
- Willemsen, Michèl A.;
- van Kessel, Ad Geurts;
- Brunner, Han G.;
- Veltman, Joris A.;
- van Bokhoven, Hans;
- de Brouwer, Arjan P. M.;
- de Vries, Bert B. A.
Publication type:
Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
By:
- Koolen, David A.;
- Sistermans, Erik A.;
- Nilessen, Willy;
- Knight, Samantha J. L.;
- Regan, Regina;
- Liu, Yan T.;
- Kooy, R. Frank;
- Rooms, Liesbeth;
- Romano, Corrado;
- Fichera, Marco;
- Schinzel, Albert;
- Baumer, Alessandra;
- Anderlid, Britt-Marie;
- Schoumans, Jacqueline;
- Van Kessel, Ad Geurts;
- Nordenskjold, Magnus;
- De Vries, Bert B. A.
Publication type:
Article
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.
Published in:
2007
By:
- Romano, Corrado;
- Knight, Samantha J. L.;
- Martin, Christa Lese;
- de Vries, Bert B. A.
Publication type:
Proceeding
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 9, p. 930, doi. 10.1038/sj.ejhg.5201865
By:
- de Vries, Bert B. A.;
- Pals, Gerard;
- Odink, Roelof;
- Hamel, Ben C. J.
Publication type:
Article
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.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
By:
- Dauwerse, Johannes G;
- de Vries, Bert B A;
- Wouters, Cokkie H;
- Bakker, Egbert;
- Rappold, Gudrun;
- Mortier, Geert R;
- Breuning, Martijn H;
- Peters, Dorien J M
Publication type:
Article
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
Published in:
2005
By:
- Koolen, David A..;
- Knoers, Nine V. A. M.;
- Nillesen, Willy M.;
- Slabbers, Gordon H. P. R.;
- Smeets, Dominique;
- de Leeuw, Nicole;
- Sistermans, Erik A.;
- de Vries, Bert B. A.
Publication type:
Letter
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
By:
- Koolen, David A.;
- Reardon, William;
- Rosser, Elisabeth M.;
- Lacombe, Didier;
- Hurst, Jane A.;
- Law, Caroline J.;
- Bongers, Ernie M. H. F.;
- van Ravenswaaij-Arts, Conny M.;
- Leisink, Martijn A. R;
- van Kessel, Ad Geurts;
- Veltman, Joris A.;
- de Vries, Bert B. A
Publication type:
Article
SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.
Published in:
eLife, 2024, p. 1, doi. 10.7554/eLife.91611
By:
- Zhang, Linda;
- Hsu, Joanne I.;
- Braekeleer, Etienne D.;
- Chun-Wei Chen;
- Patel, Tajhal D.;
- Martell, Alejandra G.;
- Guzman, Anna G.;
- Wohlan, Katharina;
- Waldvogel, Sarah M.;
- Hidetaka Uryu;
- Tovy, Ayala;
- Callen, Elsa;
- Murdaugh, Rebecca L.;
- Richard, Rosemary;
- Jansen, Sandra;
- Vissers, Lisenka;
- de Vries, Bert B. A.;
- Nussenzweig, Andre;
- Shixia Huang;
- Coarfa, Cristian
Publication type:
Article
Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation in NMNAT1.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 8, p. 1002, doi. 10.1001/jamaophthalmol.2014.983
By:
- Siemiatkowska, Anna M.;
- Schuurs-Hoeijmakers, Janneke H. M.;
- Bosch, Danielle G. M.;
- Boonstra, F. Nienke;
- Riemslag, Frans C. C.;
- Ruiter, Mariken;
- de Vries, Bert B. A.;
- den Hollander, Anneke I.;
- Collin, Rob W. J.;
- Cremers, Frans P. M.
Publication type:
Article
Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation.
Published in:
PLoS Computational Biology, 2010, v. 6, n. 4, p. 1, doi. 10.1371/journal.pcbi.1000752
By:
- Hehir-Kwa, Jayne Y.;
- Wieskamp, Nienke;
- Webber, Caleb;
- Pfundt, Rolph;
- Brunner, Han G.;
- Gilissen, Christian;
- de Vries, Bert B. A.;
- Ponting, Chris P.;
- Veltman, Joris A.
Publication type:
Article
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1441, doi. 10.1111/dmcn.14989
By:
- Carvill, Gemma L;
- Jansen, Sandra;
- Lacroix, Amy;
- Zemel, Matthew;
- Mehaffey, Michele;
- De Vries, Petra;
- Brunner, Han G;
- Scheffer, Ingrid E;
- De Vries, Bert B A;
- Vissers, Lisenka E L M;
- Mefford, Heather C
Publication type:
Article
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 24, p. 3892, doi. 10.1093/hmg/ddaa270
By:
- Sá, Maria J Nabais;
- Olson, Alexandra N;
- Yoon, Grace;
- Nimmo, Graeme A M;
- Gomez, Christopher M;
- Willemsen, Michèl A;
- Millan, Francisca;
- Schneider, Alexandra;
- Pfundt, Rolph;
- Brouwer, Arjan P M de;
- Dinman, Jonathan D;
- Vries, Bert B A de
Publication type:
Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
By:
- Wei Ba;
- Yan Yan;
- Reijnders, Margot R. F.;
- Schuurs-Hoeijmakers, Janneke H. M.;
- Feenstra, Ilse;
- Bongers, Ernie M. H. F.;
- Bosch, Daniëlle G. M.;
- De Leeuw, Nicole;
- Pfundt, Rolph;
- Gilissen, Christian;
- De Vries, Petra F.;
- Veltman, Joris A.;
- Hoischen, Alexander;
- Mefford, Heather C.;
- Eichler, Evan E.;
- Vissers, Lisenka E. L. M.;
- Kasri, Nael Nadif;
- De Vries, Bert B. A.
Publication type:
Article
Genome sequencing identifies major causes of severe intellectual disability.
Published in:
Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
By:
- Gilissen, Christian;
- Hehir-Kwa, Jayne Y.;
- Thung, Djie Tjwan;
- van de Vorst, Maartje;
- van Bon, Bregje W. M.;
- Willemsen, Marjolein H.;
- Kwint, Michael;
- Janssen, Irene M.;
- Hoischen, Alexander;
- Schenck, Annette;
- Leach, Richard;
- Klein, Robert;
- Tearle, Rick;
- Bo, Tan;
- Pfundt, Rolph;
- Yntema, Helger G.;
- de Vries, Bert B. A.;
- Kleefstra, Tjitske;
- Brunner, Han G.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Published in:
Nature, 2011, v. 478, n. 7367, p. 97, doi. 10.1038/nature10406
By:
- Jacquemont, Sébastien;
- Reymond, Alexandre;
- Zufferey, Flore;
- Harewood, Louise;
- Walters, Robin G.;
- Kutalik, Zoltán;
- Martinet, Danielle;
- Shen, Yiping;
- Valsesia, Armand;
- Beckmann, Noam D.;
- Thorleifsson, Gudmar;
- Belfiore, Marco;
- Bouquillon, Sonia;
- Campion, Dominique;
- de Leeuw, Nicole;
- de Vries, Bert B. A.;
- Esko, Tõnu;
- Fernandez, Bridget A.;
- Fernández-Aranda, Fernando;
- Fernández-Real, José Manuel
Publication type:
Article
Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders.
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PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005012
By:
- Andrews, Tallulah;
- Meader, Stephen;
- Vulto-van Silfhout, Anneke;
- Taylor, Avigail;
- Steinberg, Julia;
- Hehir-Kwa, Jayne;
- Pfundt, Rolph;
- de Leeuw, Nicole;
- de Vries, Bert B. A.;
- Webber, Caleb
Publication type:
Article
Forging Links between Human Mental Retardation-Associated CNVs and Mouse Gene Knockout Models.
Published in:
PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000531
By:
- Webber, Caleb;
- Hehir-Kwa, Jayne Y.;
- Duc-Quang Nguyen;
- de Vries, Bert B. A.;
- Veltman, Joris A.;
- Ponting, Chris P.
Publication type:
Article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Published in:
Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
By:
- van der Sluijs, Pleuntje J.;
- Alders, Mariëlle;
- Dingemans, Alexander J. M.;
- Parbhoo, Kareesma;
- van Bon, Bregje W.;
- Dempsey, Jennifer C.;
- Doherty, Dan;
- den Dunnen, Johan T.;
- Gerkes, Erica H.;
- Milller, Ilana M.;
- Moortgat, Stephanie;
- Regier, Debra S.;
- Ruivenkamp, Claudia A. L.;
- Schmalz, Betsy;
- Smol, Thomas;
- Stuurman, Kyra E.;
- Vincent-Delorme, Catherine;
- de Vries, Bert B. A.;
- Sadikovic, Bekim;
- Hickey, Scott E.
Publication type:
Article
Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547
By:
- Wuyts, Wim;
- Van Hul, Wim;
- Wauters, Jan;
- Nemtsova, Marina;
- Reyniers, Edwin;
- Van Hul, Els;
- De Boulle, Kristel;
- de Vries, Bert B. A.;
- Hendrickx, Jan;
- Herrygers, Ilde;
- Bossuyt, Paul;
- Balemans, Wendy;
- Fransen, Erik;
- Vits, Lieve;
- Coucke, Paul;
- Nowak, Norma J.;
- Shows, Thomas B.;
- Mallet, Laurence;
- van den Ouweland, Ans M. W.;
- McGaughran, Julie
Publication type:
Article
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 1, p. 167
By:
- Wu, Yuan-Qing;
- Heutink, Peter;
- de Vries, Bert B. A.;
- Sandkuijl, Lodewijk A.;
- van den Ouweland, Ans M. W.;
- Niermeijer, Martinus F.;
- Galjaard, Hans;
- Reyniers, Edwin;
- Willems, Patrick J.;
- J. J.Halley, Dicky
Publication type:
Article

Found: 44