Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeKOOLEN, David A; KRAMER, Jamie M; SAU WAI CHEUNG et al.Nature genetics. 2012, Vol 44, Num 6, pp 639-641, issn 1061-4036, 3 p.Article

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability SyndromeSCHUURS-HOEIJMAKERS, Janneke H. M; OH, Edwin C; BOKHOVEN, Hans Van et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1122-1127, issn 0002-9297, 6 p.Article

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPPVISSERS, Lisenka E. L. M; LAUSCH, Ekkehart; NAIR, Mohandas et al.American journal of human genetics. 2011, Vol 88, Num 5, pp 608-615, issn 0002-9297, 8 p.Article

A Novel Xp22.11 Deletion Causing a Syndrome of Craniosynostosis and Periventricular Nodular HeterotopiaVAN KOGELENBERG, Margriet; LERONE, Margherita; DE TONI, Teresa et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3144-3147, issn 1552-4825, 4 p.Article

Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental RetardationLUGTENBERG, Dorien; ZANGRANDE-VIEIRA, Luiz; ULLMANN, Reinhard et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 638-645, issn 1552-4825, 8 p.Article

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP MicroarraysDEN HOLLANDER, Anneke I; LOPEZ, Irma; MUSARELLA, Maria A et al.Investigative ophthalmology & visual science. 2007, Vol 48, Num 12, pp 5690-5698, issn 0146-0404, 9 p.Article

Mapping of resection margins of oral cancer for p53 overexpression and chromosome instability to detect residual (pre)malignant cellsVAN DER TOOM, Peter-Paul G; VELTMAN, Joris A; BOT, Fredrik J et al.Journal of pathology. 2001, Vol 193, Num 1, pp 66-72, issn 0022-3417Article

Genetic Variation in CACNA1C, a Gene Associated with Bipolar Disorder, Influences Brainstem Rather than Gray Matter Volume in Healthy IndividualsFRANKE, Barbara; ARIAS VASQUEZ, Alejandro; VELTMAN, Joris A et al.Biological psychiatry (1969). 2010, Vol 68, Num 6, pp 586-588, issn 0006-3223, 3 p.Article

Identification of disease genes by whole genome CGH arraysVISSERS, Lisenka E. L. M; VELTMAN, Joris A; VAN KESSEL, Ad Geurts et al.Human molecular genetics (Print). 2005, Vol 14, pp R215-R223, issn 0964-6906, NSArticle

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular InvolvementESTRADA-CUZCANO, Alejandro; NEVELING, Kornelia; LETTEBOER, Stef J. F et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 102-109, issn 0002-9297, 8 p.Article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessWORTMANN, Saskia B; VAZ, Frederic M; RODENBURG, Richard J et al.Nature genetics. 2012, Vol 44, Num 7, pp 797-802, issn 1061-4036, 6 p.Article

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis ImperfectaBECKER, Jutta; SEMLER, Oliver; DE VRIES, Petra et al.American journal of human genetics. 2011, Vol 88, Num 3, pp 362-371, issn 0002-9297, 10 p.Article

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar SyndromeIQBAL, Zafar; CEJUDO-MARTIN, Pilar; ALANAY, Yasemin et al.American journal of human genetics. 2010, Vol 86, Num 2, pp 254-261, issn 0002-9297, 8 p.Article

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded LebercilinCOENE, Karlien L. M; ROEPMAN, Ronald; AZHIMI, Malika et al.American journal of human genetics. 2009, Vol 85, Num 4, pp 465-481, issn 0002-9297, 17 p.Article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismKOOLEN, David A; VISSERS, Lisenka E. L. M; SCHINZEL, Albert et al.Nature genetics. 2006, Vol 38, Num 9, pp 999-1001, issn 1061-4036, 3 p.Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndromeVISSERS, Lisenka E. L. M; VAN RAVENSWAAIJ, Conny M. A; SCHOENMAKERS, Eric F. P. M et al.Nature genetics. 2004, Vol 36, Num 9, pp 955-957, issn 1061-4036, 3 p.Article

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumorsVELTMAN, Joris A; FRIDLYAND, Jane; CORDON-CARDO, Carlos et al.Cancer research (Baltimore). 2003, Vol 63, Num 11, pp 2872-2880, issn 0008-5472, 9 p.Article

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomesVELTMAN, Imke M; VELTMAN, Joris A; ARKESTEIJN, Ger et al.BioTechniques. 2003, Vol 35, Num 5, pp 1066-1070, issn 0736-6205, 4 p.Article

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancerWILHELM, Monica; VELTMAN, Joris A; OLSHEN, Adam B et al.Cancer research (Baltimore). 2002, Vol 62, Num 4, pp 957-960, issn 0008-5472Article

Specific steps in aneuploidization correlate with loss of heterozygosity of 9p21, 17p13 and 18q21 in the progression of pre-malignant laryngeal lesionsVELTMAN, Joris A; VAN WEERT, Ingrid; AUBELE, Michaela et al.International journal of cancer. 2001, Vol 91, Num 2, pp 193-199, issn 0020-7136Article

Cantú Syndrome Is Caused by Mutations in ABCC9VAN BON, Bregje W. M; GILISSEN, Christian; ISIDOR, Bertrand et al.American journal of human genetics. 2012, Vol 90, Num 6, pp 1094-1101, issn 0002-9297, 8 p.Article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanROSCIOLI, Tony; KAMSTEEG, Erik-Jan; SCHRADERS, Margit et al.Nature genetics. 2012, Vol 44, Num 5, pp 581-585, issn 1061-4036, 5 p.Article

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesCOSSEC, Jack-Christophe; LAVAUR, Jeremie; DE CHAUMONT, Fabrice et al.Human molecular genetics (Print). 2012, Vol 21, Num 14, pp 3156-3172, issn 0964-6906, 17 p.Article

Whole-Exome Sequencing Detects Somatic Mutations of IDH1 in Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria (MC-HGA)VISSERS, Lisenka E. L. M; FANO, Virginia; NISHIMURA, Gen et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2609-2616, issn 1552-4825, 8 p.Article

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19BREDRUP, Cecilie; SAUNIER, Sophie; NITSCHKE, Patrick et al.American journal of human genetics. 2011, Vol 89, Num 5, pp 634-643, issn 0002-9297, 10 p.Article