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Publications by Niels Tommerup
De Novo Unbalanced Translocations Have a Complex History/Aetiology
Human Genetics
Genetics
No Evidence for Pathogenic Variants or Maternal Effect of ZFP57 as the Cause of Beckwith–Wiedemann Syndrome
European Journal of Human Genetics
Genetics
Haploinsufficiency of CELF4 at 18q12.2 Is Associated With Developmental and Behavioral Disorders, Seizures, Eye Manifestations, and Obesity
European Journal of Human Genetics
Genetics
Preaxial Polydactyly/Triphalangeal Thumb Is Associated With Changed Transcription Factor-Binding Affinity in a Family With a Novel Point Mutation in the Long-Range Cis-Regulatory Element ZRS
European Journal of Human Genetics
Genetics
Position Effect, Cryptic Complexity, and Direct Gene Disruption as Disease Mechanisms in De Novo Apparently Balanced Translocation Cases
PLoS ONE
Multidisciplinary
Cryptic Breakpoint Identified by Whole-Genome Mate-Pair Sequencing in a Rare Paternally Inherited Complex Chromosomal Rearrangement
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Relating Genomic Variation to Drug Response in Childhood Acute Lymphoblastic Leukemia by Multiplexed Targeted Sequencing
Genome Biology
A 3.2 Mb Deletion on 18q12 in a Patient With Childhood Autism and High-Grade Myopia
European Journal of Human Genetics
Genetics
Genetic Linkage of Autosomal Dominant Primary Open Angle Glaucoma to Chromosome 3q in a Greek Pedigree
European Journal of Human Genetics
Genetics
