Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

(2020) Jamie McDonald et al.   GENETICS IN MEDICINE

LIST-S2: taxonomy based sorting of deleterious missense mutations across species

(2020) Nawar Malhis et al.   NUCLEIC ACIDS RESEARCH

Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

(2020) Jinrong Liu et al.   PEDIATRICS

Role of bone morphogenetic protein-9 in the regulation of glucose and lipid metabolism

(2019) Min Yang et al.   FASEB JOURNAL

Bone Morphogenetic Protein 9 Reduces Cardiac Fibrosis and Improves Cardiac Function in Heart Failure

(2018) Kevin J. Morine et al.   CIRCULATION

The role of TGF-β/SMAD4 signaling in cancer

(2018) Ming Zhao et al.   International Journal of Biological Sciences

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital

(2018) Torbjörn Karlsson et al.   UPSALA JOURNAL OF MEDICAL SCIENCES

DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins

(2017) Daniele Raimondi et al.   NUCLEIC ACIDS RESEARCH

Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1

(2017) Takako Saito et al.   Cell Reports

Downregulated microRNA-23b promotes BMP9-mediated osteogenesis in C2C12 myoblast cells by targeting Runx2

(2016) CHU CHEN et al.   Molecular Medicine Reports

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BMP9 is produced by hepatocytes and circulates mainly in an active mature form complexed to its prodomain

(2011) Marie Bidart et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

(2011) Paweł Stankiewicz et al.   HUMAN MUTATION

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

(2010) J McDonald et al.   CLINICAL GENETICS

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia

(2010) Jennifer Richards-Yutz et al.   HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

(2009) Fatima S Govani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH