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	21.	Parent-of-origin-specific signatures of de novo mutations. [electronic resource] by Goldmann, Jakob M Wong, Wendy S W Pinelli, Michele Farrah, Terry Bodian, Dale Stittrich, Anna B Glusman, Gustavo Vissers, Lisenka E L M Hoischen, Alexander Roach, Jared C Vockley, Joseph G Veltman, Joris A Solomon, Benjamin D Gilissen, Christian Niederhuber, John E Producer: 20170907 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. [electronic resource] by Iqbal, Zafar Shahzad, Mohsin Vissers, Lisenka E L M van Scherpenzeel, Monique Gilissen, Christian Razzaq, Attia Zahoor, Muhammad Yasir Khan, Shaheen N Kleefstra, Tjitske Veltman, Joris A de Brouwer, Arjan P M Lefeber, Dirk J van Bokhoven, Hans Riazuddin, Sheikh Producer: 20131029 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. [electronic resource] by Koolen, David A Dupont, Juliette de Leeuw, Nicole Vissers, Lisenka E L M van den Heuvel, Simone P A Bradbury, Alyson Steer, James de Brouwer, Arjan P M Ten Kate, Leo P Nillesen, Willy M de Vries, Bert B A Parker, Michael J Producer: 20121012 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. [electronic resource] by Vissers, Lisenka E L M Lausch, Ekkehart Unger, Sheila Campos-Xavier, Ana Belinda Gilissen, Christian Rossi, Antonio Del Rosario, Marisol Venselaar, Hanka Knoll, Ute Nampoothiri, Sheela Nair, Mohandas Spranger, Jürgen Brunner, Han G Bonafé, Luisa Veltman, Joris A Zabel, Bernhard Superti-Furga, Andrea Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. [electronic resource] by Itsara, Andy Vissers, Lisenka E L M Steinberg, Karyn Meltz Meyer, Kevin J Zody, Michael C Koolen, David A de Ligt, Joep Cuppen, Edwin Baker, Carl Lee, Choli Graves, Tina A Wilson, Richard K Jenkins, Robert B Veltman, Joris A Eichler, Evan E Producer: 20120531 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	A de novo paradigm for mental retardation. [electronic resource] 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 Producer: 20101230 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. [electronic resource] by Schlaubitz, Silke Yatsenko, Svetlana A Smith, Laurie D Keller, Kory L Vissers, Lisenka E Scott, Daryl A Cai, Wei Wen Reardon, William Abdul-Rahman, Omar A Lammer, Edward J Lifchez, Caroline A Magenis, Ellen Veltman, Joris A Stankiewicz, Pawel Zabel, Bernhard U Lee, Brendan Producer: 20070629 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. [electronic resource] by Willemsen, Marjolein H Vissers, Lisenka E L Willemsen, Michèl A A P van Bon, Bregje W M Kroes, Thessa de Ligt, Joep de Vries, Bert B Schoots, Jeroen Lugtenberg, Dorien Hamel, Ben C J van Bokhoven, Hans Brunner, Han G Veltman, Joris A Kleefstra, Tjitske Producer: 20120611 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture. [electronic resource] by Buysse, Karen Beulen, Lean Gomes, Ingrid Gilissen, Christian Keesmaat, Chantal Janssen, Irene M Derks-Willemen, Judith J H T de Ligt, Joep Feenstra, Ilse Bekker, Mireille N van Vugt, John M G Geurts van Kessel, Ad Vissers, Lisenka E L M Faas, Brigitte H W Producer: 20140826 In: Clinical biochemistry vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. [electronic resource] by Zafarana, Gaetano Grygalewicz, Beata Gillis, Ad J M Vissers, Lisenka E L M van de Vliet, Walter van Gurp, Ruud J H L M Stoop, Hans Debiec-Rychter, Maria Oosterhuis, Jan Wolter van Kessel, Ad Geurts Schoenmakers, Eric F P M Looijenga, Leendert H J Veltman, Joris A Producer: 20031205 In: Oncogene vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). [electronic resource] by Vissers, Lisenka E L M Fano, Virginia Martinelli, Diego Campos-Xavier, Belinda Barbuti, Domenico Cho, Tae-Joon Dursun, Ahmet Kim, Ok Hwa Lee, Sun Hee Timpani, Giuseppina Nishimura, Gen Unger, Sheila Sass, Jörn Oliver Veltman, Joris A Brunner, Han G Bonafé, Luisa Dionisi-Vici, Carlo Superti-Furga, Andrea Producer: 20120209 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. [electronic resource] by Iqbal, Zafar Püttmann, Lucia Musante, Luciana Razzaq, Attia Zahoor, Muhammad Yasir Hu, Hao Wienker, Thomas F Garshasbi, Masoud Fattahi, Zohreh Gilissen, Christian Vissers, Lisenka E L M de Brouwer, Arjan P M Veltman, Joris A Pfundt, Rolph Najmabadi, Hossein Ropers, Hans-Hilger Riazuddin, Sheikh Kahrizi, Kimia van Bokhoven, Hans Producer: 20161031 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. [electronic resource] by Schuurs-Hoeijmakers, Janneke H M Oh, Edwin C Vissers, Lisenka E L M Swinkels, Mariëlle E M Gilissen, Christian Willemsen, Michèl A Holvoet, Maureen Steehouwer, Marloes Veltman, Joris A de Vries, Bert B A van Bokhoven, Hans de Brouwer, Arjan P M Katsanis, Nicholas Devriendt, Koenraad Brunner, Han G Producer: 20130214 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. [electronic resource] by Simpson, Michael A Deshpande, Charu Dafou, Dimitra Vissers, Lisenka E L M Woollard, Wesley J Holder, Susan E Gillessen-Kaesbach, Gabriele Derks, Ronny White, Susan M Cohen-Snuijf, Ruthy Kant, Sarina G Hoefsloot, Lies H Reardon, Willie Brunner, Han G Bongers, Ernie M H F Trembath, Richard C Producer: 20120619 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. [electronic resource] by Vissers, Lisenka E L M Bhatt, Samarth S Janssen, Irene M Xia, Zhilian Lalani, Seema R Pfundt, Rolph Derwinska, Katarzyna de Vries, Bert B A Gilissen, Christian Hoischen, Alexander Nesteruk, Monika Wisniowiecka-Kowalnik, Barbara Smyk, Marta Brunner, Han G Cheung, Sau Wai van Kessel, Ad Geurts Veltman, Joris A Stankiewicz, Pawel Producer: 20091109 In: Human molecular genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. [electronic resource] by Swinkels, Mariëlle E M Simons, Annet Smeets, Dominique F Vissers, Lisenka E Veltman, Joris A Pfundt, Rolph de Vries, Bert B A Faas, Brigitte H W Schrander-Stumpel, Connie T R M McCann, Emma Sweeney, Elizabeth May, Paul Draaisma, Jos M Knoers, Nine V van Kessel, Ad Geurts van Ravenswaaij-Arts, Conny M A Producer: 20080626 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Diagnostic exome sequencing in persons with severe intellectual disability. [electronic resource] by de Ligt, Joep Willemsen, Marjolein H van Bon, Bregje W M Kleefstra, Tjitske Yntema, Helger G Kroes, Thessa Vulto-van Silfhout, Anneke T Koolen, David A de Vries, Petra Gilissen, Christian del Rosario, Marisol Hoischen, Alexander Scheffer, Hans de Vries, Bert B A Brunner, Han G Veltman, Joris A Vissers, Lisenka E L M Producer: 20121127 In: The New England journal of medicine vol. 367 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. [electronic resource] 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 Producer: 20061106 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. [electronic resource] 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 Producer: 20041004 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. [electronic resource] by Vissers, Lisenka E L M Bonetti, Monica Paardekooper Overman, Jeroen Nillesen, Willy M Frints, Suzanna G M de Ligt, Joep Zampino, Giuseppe Justino, Ana Machado, José C Schepens, Marga Brunner, Han G Veltman, Joris A Scheffer, Hans Gros, Piet Costa, José L Tartaglia, Marco van der Burgt, Ineke Yntema, Helger G den Hertog, Jeroen Producer: 20151022 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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