Emilia K. Bijlsma

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 et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

C. M. Bilardo, M. A. Müller, Eva Pajkrt et al. · Ultrasound in Obstetrics and Gynecology · 2007 · 172 citations · Full text

Medicine, Genetics, Obstetrics +17

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch et al. · European Journal of Human Genetics · 2009 · 85 citations · Full text

Medicine, Pediatrics, Psychiatry +13

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling et al. · Human Genetics · 2018 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17