Ton van Essen
University Medical Center Groningen(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy(2004)365 cited
- → Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances(2009)167 cited
- → Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome(2015)119 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies(2011)115 cited
- → Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer(2013)100 cited
- → Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene(2000)95 cited
- → Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability(2017)81 cited
- → Somatic mosaicism and clinical variation in tuberous sclerosis complex(1995)79 cited
- → FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions(2006)64 cited