Connie Schrander‐Stumpel
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Identification of the familial cylindromatosis tumour-suppressor gene(2000)669 cited
- → Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA(2012)358 cited
- → Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation(2013)246 cited
- → Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome(2009)218 cited
- → Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis(1998)216 cited
- → MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM(1994)154 cited
- → Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)(2003)116 cited
- → Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function(2009)98 cited
- → SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles(2010)97 cited
- → A duplication in the L1CAM gene associated with X–linked hydrocephalus(1993)96 cited