Marjolein Kriek

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Hum Genet 14:180-9. 2006
  2. ncbi request reprint A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg, 2300 RC, Leiden, The Netherlands
    Hum Genet 120:77-84. 2006
  3. ncbi request reprint Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
    Am J Med Genet A 143:610-4. 2007
  4. ncbi request reprint Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses
    Stefan J White
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Hum Mutat 24:86-92. 2004
  5. doi 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
  6. 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
  7. doi request reprint The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis
    Sarina G Kant
    Center for Human and Clinical Genetics Department of Clinical Genetics, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 96:E356-9. 2011
  8. pmc Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    Saskia A J Lesnik Oberstein
    Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Am J Hum Genet 79:562-6. 2006
  9. 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
  10. doi request reprint Next-generation diagnostics: gene panel, exome, or whole genome?
    Yu Sun
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 36:648-55. 2015

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Hum Genet 14:180-9. 2006
    ..11. Our results support the hypothesis that regions flanked by duplicons are enriched for copy number variations...
  2. ncbi request reprint A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg, 2300 RC, Leiden, The Netherlands
    Hum Genet 120:77-84. 2006
    ..This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact...
  3. ncbi request reprint Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
    Am J Med Genet A 143:610-4. 2007
  4. ncbi request reprint Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses
    Stefan J White
    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Hum Mutat 24:86-92. 2004
    ..The approach is especially suited for cases in which the number of patients to be tested is limited, making it financially unattractive to invest in cloning...
  5. doi 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. ..
  6. 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...
  7. doi request reprint The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis
    Sarina G Kant
    Center for Human and Clinical Genetics Department of Clinical Genetics, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 96:E356-9. 2011
    ..As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa...
  8. pmc Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    Saskia A J Lesnik Oberstein
    Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Am J Hum Genet 79:562-6. 2006
    ..This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects...
  9. 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...
  10. doi request reprint Next-generation diagnostics: gene panel, exome, or whole genome?
    Yu Sun
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 36:648-55. 2015
    ..Our findings indicate that WES is currently the optimal approach to ID diagnostics. This result depends on the capture kit and sequencing strategy used. The developed framework however is amenable to other sequencing approaches...
  11. 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
    ....
  12. ncbi request reprint Refinement of the genetic cause of ATR-16
    Cornelis L Harteveld
    Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center LUMC, 2333RC Leiden, The Netherlands
    Hum Genet 122:283-92. 2007
    ..The region on chromosome 16p for which haploinsufficiency leads to the dysmorphic features and MR typical for ATR-16, has been narrowed down to a 800 kb region localized between 0.9 and 1.7 Mb from the telomere...
  13. doi request reprint Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes
    Antoinet C J Gijsbers
    Center for Human and Clinical Genetics, Leiden University Medical Center LUMC, Leiden, The Netherlands
    Eur J Med Genet 53:227-33. 2010
    ..These data demonstrate that high-resolution array screening and conventional karyotyping is necessary to tie complex karyotypes to phenotypes of MR patients...
  14. pmc Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
    Stefan White
    Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Am J Hum Genet 71:365-74. 2002
    ..Furthermore, the methodology should be applicable to any genetic disease, it should be easily expandable to cover >200 probes, and its characteristics should facilitate high-throughput screening...
  15. 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
    ....
  16. pmc Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
    Yu Sun
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1375-81. 2012
    ..Collectively, our observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling...