Array-CGH

[1]  R. Siebert,et al.  A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis. , 2011, European journal of medical genetics.

[2]  S. Bens,et al.  A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. , 2011, European journal of medical genetics.

[3]  R. Siebert,et al.  A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1. , 2011, European journal of medical genetics.

[4]  R. Siebert,et al.  A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review. , 2011, European journal of medical genetics.

[5]  H. Ropers,et al.  Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes , 2010, Nature Genetics.

[6]  G. Gillessen‐kaesbach,et al.  A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation , 2010, Clinical dysmorphology.

[7]  R. Pfundt,et al.  Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region , 2010, Epilepsia.

[8]  R. Siebert,et al.  Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. , 2010, European journal of medical genetics.

[9]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[10]  R. Siebert,et al.  Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1 , 2010, American journal of medical genetics. Part A.