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Publications by Maria Kibaek
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
American Journal of Human Genetics
Genetics
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
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Single-Cell Copy Number Variant Detection Reveals the Dynamics and Diversity of Adaptation
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Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Science
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Philosophy of Science
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The Epidemic of Abnormal Copy Number Variant Cases Missed Because of Reliance Upon Noninvasive Prenatal Screening
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Are Insolation and Sunspot Activity the Primary Drivers of Holocene Glacier Fluctuations?
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Copy Number Variants of ABCF1, IL17REL, and FCGR3A Are Associated With the Risk of Gout
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Drug Discovery
Cell Biology
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Multisite Analysis of High‐grade Serous Epithelial Ovarian Cancers Identifies Genomic Regions of Focal and Recurrent Copy Number Variation in 3p26.2 and 8q24.3
International Journal of Cancer
Cancer Research
Oncology
Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies
Annals of Neurology
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Duplications and Copy Number Variants of 8p23.1 Are Cytogenetically Indistinguishable but Distinct at the Molecular Level
European Journal of Human Genetics
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A Novel Rare Copy Number Variant of the ABCF1 Gene Identified Among Dengue Fever Patients From Peninsular Malaysia
Genetics and Molecular Research
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