Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, +22

European Journal of Medical Genetics

Normal IndividualsPsychiatrySyndromic AutismGenetic DisorderGenetics +9

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, +27

European Journal of Medical Genetics

Developmental BiologyGenetic DisorderGeneticsPathogenesisPathology +5

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, +23

Molecular Syndromology

Down SyndromeChromatinDevelopmental BiologyMendelian DisorderEndocrine Disease +13

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter Krawitz, Yoshiko Murakami, Jochen Hecht, +12

The American Journal of Human Genetics

Cause HyperphosphatasiaDevelopmental BiologyGenetic DisorderGeneticsInherited Metabolic Disease +5

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, +5

European Journal of Medical Genetics

MedicineSample ExperiencePathologyCnv InterpretationLaboratory Medicine +5

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, +15

Genetics in Medicine

Genetic TestingPrenatal Genetic TestingClinical UtilityGeneticsGenetic Epidemiology +9

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert, +29

European Journal of Human Genetics

Mendelian DisorderClinical TranslationGenetic DisorderPathologyMed13l Syndrome +1

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Diana Mitter, Barbara Delle Chiaie, Hermann‐Josef Lüdecke, +12

American Journal of Medical Genetics Part A

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn Menten, Katrien Swerts, Barbara Delle Chiaie, +4

BMC Medical Genetics

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Dorien Baetens, Wilhelm Mladenov, Barbara Delle Chiaie, +8

Orphanet Journal of Rare Diseases