De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

SIAH1 ubiquitin ligase mediates ubiquitination and degradation of Akt3 in neural development

(2019) Hyo Rim Ko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The SIAH E3 ubiquitin ligases promote Wnt/β-catenin signaling through mediating Wnt-induced Axin degradation

(2017) Lei Ji et al.   GENES & DEVELOPMENT

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

(2017) Dorota Monies et al.   HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Seven in Absentia E3 Ubiquitin Ligases: Central Regulators of Neural Cell Fate and Neuronal Polarity

(2017) Taren Ong et al.   Frontiers in Cellular Neuroscience

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular DiseaseCLINICAL PERSPECTIVE

(2017) Gloria T. Haskell et al.   Circulation-Cardiovascular Genetics

A Critical Role for Ubiquitination in the Endocytosis of Glutamate Receptors

(2016) Ravinder Gulia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

Investigating the Molecular Basis of Siah1 and Siah2 E3 Ubiquitin Ligase Substrate Specificity

(2014) Anupriya Gopalsamy et al.   PLoS One

Siah: A Promising Anticancer Target

(2013) C. S. F. Wong et al.   CANCER RESEARCH

Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation

(2013) Clarissa L Waites et al.   EMBO JOURNAL

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Inhibition of tumorigenesis driven by different Wnt proteins requires blockade of distinct ligand-binding regions by LRP6 antibodies

(2010) S. A. Ettenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Siah Regulation of Pard3A Controls Neuronal Cell Adhesion During Germinal Zone Exit

(2010) J. K. Famulski et al.   SCIENCE

Alterations of ubiquitin ligases in human cancer and their association with the natural history of the tumor

(2009) S Confalonieri et al.   ONCOGENE