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Publications by Brendan C. Lanpher
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
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
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
Pediatrics
Child Health
Pediatrics
Perinatology
Redefined Genomic Architecture in 15q24 Directed by Patient Deletion/Duplication Breakpoint Mapping
Human Genetics
Genetics
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
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Putting Gene Essentiality Into Context
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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Autoimmune Diseases — Connecting Risk Alleles With Molecular Traits of the Immune System
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Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era
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