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Publications by Elias Pratt

Loss of OATP1B3 Function Causes Rotor Syndrome

Cancer Biology and Therapy

Cancer Research

Molecular Medicine

English

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Loss of NEIL1 Causes Defects in Olfactory Function in Mice

Neurobiology of Aging

Developmental Biology

English

Loss of Werner Syndrome Protein Function Promotes Aberrant Mitotic Recombination

Genes and Development

Developmental Biology

English

A Gain-Of-Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss

English

Loss of Neprilysin Function Promotes Amyloid Plaque Formation and Causes Cerebral Amyloid Angiopathy

American Journal of Pathology

Forensic Medicine

English

Loss of Pin1 Function in the Mouse Causes Phenotypes Resembling Cyclin D1-Null Phenotypes

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

Multidisciplinary

English

Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function

English

BMP4 Loss-Of-Function Mutations in Developmental Eye Disorders Including SHORT Syndrome

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

A Loss Causes a Breakthrough

Arquivos de Gastroenterologia

Gastroenterology

English