Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt, +23

Genetics in Medicine

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Wietske A. Ester, Hermine A. van Duyvenvoorde, C.C. de Wit, +6

The Journal of Clinical Endocrinology & Metabolism

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, +4

European Journal of Human Genetics

Genetic TestingPrenatal Genetic TestingRapid Prenatal DiagnosisGeneticsMedicine +10

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Malgorzata I. Srebniak, Karin E. M. Diderich, Marieke Joosten, +10

European Journal of Human Genetics

Developmental AnomalyUltrasound AnomaliesPrenatal Genetic TestingPrenatal Snp ArrayPrenatal Genetic Screening +11

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

Sophie van Rijn, Lex Stockmann, Martine Borghgraef, +5

Journal of Autism and Developmental Disorders

Child PsychologyBehavioral SciencesSocial Behavioral PhenotypeSocial BehaviorExtra X Chromosome +10

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, +9

Molecular Cytogenetics

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

Catharina J. Heesterbeek, Sietse Aukema, Robert‐Jan H. Galjaard, +20

Journal of Clinical Oncology

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

Diane Van Opstal, Femke de Vries, Lutgarde Govaerts, +7

Human Mutation

FertilityGeneticsGenetic EpidemiologyReproductive HealthGynecology +19

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Karin E. M. Diderich, Kathleen Romijn, Marieke Joosten, +16

Acta Obstetricia Et Gynecologica Scandinavica

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

Malgorzata I. Srebniak, M. C. de Wit, Karin E. M. Diderich, +9

Molecular Cytogenetics