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Publications by Jane Juusola

The Ubiquitin Ligase UBE3B, Disrupted in Intellectual Disability and Absent Speech, Regulates Metabolic Pathways by Targeting BCKDK

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English

A Germline Variant in thePANX1Gene Has Reduced Channel Function and Is Associated With Multisystem Dysfunction

Journal of Biological Chemistry

Molecular Biology

English

Genetic Counseling in Industry Settings: Opportunities in the Era of Precision Health

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

English

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies

Molecular Medicine

English

the Importance of Managing the Patient and Not the Gene: Expanded Phenotype of GLE1 -Associated Arthrogryposis

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Congenital Methemoglobinemia Type II in a 5-Year-Old Boy

Clinical Case Reports

English

Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders

English