Gijs W E Santen

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. pmc SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Epigenetics 7:1219-24. 2012
  2. doi request reprint Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:379-80. 2012
  3. doi request reprint Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, Postbus 9600, Leiden 2300 RC, The Netherlands
    J Med Genet 49:366-72. 2012
  4. ncbi request reprint Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 34:1519-28. 2013
  5. doi request reprint GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America
    Rowida Almomani
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 161:973-6. 2013
  6. ncbi request reprint Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome
    Emmelien Aten
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 34:430-4. 2013
  7. doi request reprint Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
    Maartje Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Med Genet 49:598-600. 2012
  8. doi request reprint Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
    Yu Sun
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Hum Mutat 34:706-13. 2013
  9. pmc Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1370-4. 2012

Collaborators

Detail Information

Publications9

  1. pmc SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Epigenetics 7:1219-24. 2012
    ..Here we compare the mutational spectrum of SWI/SNF components in intellectual disability syndromes and cancer, and discuss the implications of the results of this comparison for the patients...
  2. doi request reprint Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:379-80. 2012
    ....
  3. doi request reprint Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, Postbus 9600, Leiden 2300 RC, The Netherlands
    J Med Genet 49:366-72. 2012
    ..With current molecular methods the authors aim to elucidate a genotype-phenotype correlation by accurately determining the size and location of the deletions and the associated phenotype...
  4. ncbi request reprint Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
    Gijs W E Santen
    Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Hum Mutat 34:1519-28. 2013
    ..Distal limbs anomalies are most marked in ARID1A patients and least in SMARCB1 patients. Numbers are small however, and larger series are needed to confirm this correlation. ..
  5. doi request reprint GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America
    Rowida Almomani
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Med Genet A 161:973-6. 2013
    ..Since the c.1473delG variant was found in Mennonite settlers, it likely originated in Europe. To support DNA diagnostics, we established an LOVD database for GPSM2 containing all variants thus far described...
  6. ncbi request reprint Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome
    Emmelien Aten
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 34:430-4. 2013
    ..Our results show that besides digging deeper to reveal nonobvious variants, isolation and analysis of RNA provides a valuable but under-appreciated tool to resolve cases with unknown genetic defects...
  7. doi request reprint Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
    Maartje Nielsen
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Med Genet 49:598-600. 2012
    ..Inappropriate activation of EVI1, usually due to a translocation, is a well known and unfavourable change in several myeloid malignancies. It is not known whether haploinsufficiency of any of these genes leads to disease in humans...
  8. doi request reprint Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
    Yu Sun
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Hum Mutat 34:706-13. 2013
    ....
  9. pmc Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
    Richard J L F Lemmers
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1370-4. 2012
    ..Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation...