Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
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Published in Neurology (09.11.2021)
Published in Neurology (09.11.2021)
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Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer
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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
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Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map
Feenstra, Ilse, Vissers, Lisenka E.L.M., Orsel, Mirjam, van Kessel, Ad Geurts, Brunner, Han G., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A.
Published in American journal of medical genetics. Part A (15.08.2007)
Published in American journal of medical genetics. Part A (15.08.2007)
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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
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Published in Neurology (08.01.2019)
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O'Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Witteveen, Josefine S, Willemsen, Marjolein H, Dombroski, Thaís C D, van Bakel, Nick H M, Nillesen, Willy M, van Hulten, Josephus A, Jansen, Eric J R, Verkaik, Dave, Veenstra-Knol, Hermine E, van Ravenswaaij-Arts, Conny M A, Wassink-Ruiter, Jolien S Klein, Vincent, Marie, David, Albert, Le Caignec, Cedric, Schieving, Jolanda, Gilissen, Christian, Foulds, Nicola, Rump, Patrick, Strom, Tim, Cremer, Kirsten, Zink, Alexander M, Engels, Hartmut, de Munnik, Sonja A, Visser, Jasper E, Brunner, Han G, Martens, Gerard J M, Pfundt, Rolph, Kleefstra, Tjitske, Kolk, Sharon M
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Auer-Grumbach, Michaela, Olschewski, Andrea, Papi, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi, Strohmaier, Heimo, Lochmüller, Hanns, Schlotter-Weigel, Beate, Senderek, Jan, Krebs, Angelika, Dick, Katherine J, Petty, Richard, Longman, Cheryl, Anderson, Neil E, Padberg, George W, Schelhaas, Helenius J, van Ravenswaaij-Arts, Conny M A, Pieber, Thomas R, Crosby, Andrew H, Guelly, Christian
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2
van der Zwaag, Paul A, Dijkhuizen, Trijnie, Gerssen-Schoorl, Klasien B.J, Colijn, Anja W, Broens, Paul M.A, Flapper, Boudien C.T, van Ravenswaaij-Arts, Conny M.A
Published in European journal of medical genetics (01.01.2010)
Published in European journal of medical genetics (01.01.2010)
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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies
Gerkes, Erica H, van der Kevie-Kersemaekers, Anne-Marie F, Yakin, Mariam, Smeets, Dominique F.C.M, van Ravenswaaij-Arts, Conny M.A
Published in European journal of medical genetics (01.01.2010)
Published in European journal of medical genetics (01.01.2010)
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Diagnostic Genome Profiling in Mental Retardation
de Vries, Bert B.A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E.L.M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H.L.P.G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M.A., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Brunner, Han G., Veltman, Joris A.
Published in American journal of human genetics (01.10.2005)
Published in American journal of human genetics (01.10.2005)
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The introduction of arrays in prenatal diagnosis: A special challenge
Vetro, Annalisa, Bouman, Katelijne, Hastings, Ros, McMullan, Dominic J., Vermeesch, Joris R., Miller, Konstantin, Sikkema-Raddatz, Birgit, Ledbetter, David H., Zuffardi, Orsetta, van Ravenswaaij-Arts, Conny M.A.
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Published in Human mutation (01.06.2012)
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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Bergman, Jorieke E.H., Janssen, Nicole, van der Sloot, Almer M., de Walle, Hermien E.K., Schoots, Jeroen, Rendtorff, Nanna D., Tranebjærg, Lisbeth, Hoefsloot, Lies H., van Ravenswaaij-Arts, Conny M.A., Hofstra, Robert M.W.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children
Zwanenburg, Renée J, Ruiter, Selma A J, van den Heuvel, Edwin R, Flapper, Boudien C T, Van Ravenswaaij-Arts, Conny M A
Published in Journal of neurodevelopmental disorders (26.04.2016)
Published in Journal of neurodevelopmental disorders (26.04.2016)
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Support for the Diagnosis of CHARGE Syndrome
van Ravenswaaij-Arts, Conny M A, Blake, Kim, Martin, Donna M
Published in JAMA otolaryngology-- head & neck surgery (01.06.2017)
Published in JAMA otolaryngology-- head & neck surgery (01.06.2017)
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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
Vissers, Lisenka E.L.M., de Vries, Bert B.A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, Straatman, Huub, van der Vliet, Walter, Huys, Erik H.L.P.G., van Rijk, Anke, Smeets, Dominique, van Ravenswaaij-Arts, Conny M.A., Knoers, Nine V., van der Burgt, Ineke, de Jong, Pieter J., Brunner, Han G., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Veltman, Joris A.
Published in American journal of human genetics (01.12.2003)
Published in American journal of human genetics (01.12.2003)
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Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
Vlaskamp, Danique R.M, Rump, Patrick, Callenbach, Petra M.C, Vos, Yvonne J, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M.A, Brouwer, Oebele F
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts
Wong, Monica T.Y., MD, van Ravenswaaij-Arts, Conny M.A., MD, PhD, Munns, Craig F., MD, PhD, Hsu, Peter, MD, PhD, Mehr, Sam, MD, Bocca, Gianni, MD, PhD
Published in The Journal of pediatrics (01.09.2016)
Published in The Journal of pediatrics (01.09.2016)
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The Cardiac Phenotype in Patients With a CHD7 Mutation
Corsten-Janssen, Nicole, Kerstjens-Frederikse, Wilhelmina S, du Marchie Sarvaas, Gideon J, Baardman, Maria E, Bakker, Marian K, Bergman, Jorieke E.H, Hove, Hanne D, Heimdal, Ketil R, Rustad, Cecilie F, Hennekam, Raoul C.M, Hofstra, Robert M.W, Hoefsloot, Lies H, Van Ravenswaaij-Arts, Conny M.A, Kapusta, Livia
Published in Circulation. Cardiovascular genetics (01.06.2013)
Published in Circulation. Cardiovascular genetics (01.06.2013)
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