Lodewijk A. Sandkuijl

QIMR Berghofer Medical Research Institute — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index11.7kcitations113works0.02yr avg
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Research Topics

Genetic Associations and Epidemiology(27), Genomic variations and chromosomal abnormalities(14), Genetics and Neurodevelopmental Disorders(14), Genetic Neurodegenerative Diseases(9), Genomics and Rare Diseases(9)

Publications112 total

Erratum: Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families
European Journal of Human Genetics·2008Open Access
Results of a SNP genome screen in a large Costa Rican Pedigree segregating for severe bipolar disorder
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2008· 2 citedOpen Access
Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2006· 21 cited
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
Gastroenterology·2004· 427 citedOpen Access
Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy
The American Journal of Human Genetics·2004· 58 citedOpen Access
Candidate gene approach in association studies: would the factor V Leiden mutation have been found by this approach?
European Journal of Human Genetics·2004· 15 citedOpen Access
Linkage disequilibrium in young genetically isolated Dutch population
European Journal of Human Genetics·2004· 120 citedOpen Access
Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients
Genes and Immunity·2004· 66 citedOpen Access
A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9
The American Journal of Gastroenterology·2004· 30 cited
Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations
Psychiatric Genetics·2004· 44 cited
A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands
Diabetes·2003· 32 citedOpen Access
Genome‐wide screen in obese pedigrees with type 2 diabetes mellitus from a defined Dutch population
European Journal of Clinical Investigation·2003· 12 cited
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
Nature Genetics·2003· 404 cited
Variance‐Component Analysis of Obesity in Type 2 Diabetes Confirms Loci on Chromosomes 1q and 11q
Obesity Research·2003· 16 citedOpen Access
A major non-HLA locus in celiac disease maps to chromosome 191 1This study is dedicated to the memory of Lodewijk Sandkuijl (1953–2002), who died shortly after its completion. He was an inspiration to us and was a world expert on biostatistics.
Gastroenterology·2003· 144 citedOpen Access
TOC
Gastroenterology·2003Open Access
Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22q
Epilepsia·2003· 46 cited
Novel mutations in the Na<sup>+</sup>, K<sup>+</sup>‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions
Annals of Neurology·2003· 357 cited
Genetic mapping using haplotype and model‐free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31‐33
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2003· 30 cited
Differential immunogenicity of paternal HLA Class I antigens in pregnant women
Human Immunology·2003· 42 cited
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Frequent Co-authors

Rune R. Frants(11), Peter Heutink(7), Gert‐Jan B. van Ommen(5), George W. Padberg(5), Nelson B. Freimer(5), Victor I. Reus(5), Michael Escamilla(5), Mitzi Spesny(5), Pedro León(5), Susan K. Service(5), Álvaro Gallegos(5), Eduardo Fournier(5), Cisca Wijmenga(4), Ben A. Oostra(4), Gisela M. Terwindt(4), Joost Haan(4), Michel D. Ferrari(4), Sandra Silva(4), Luís Meza(4), Steven L. Batki(4)