Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

(2016) Magnus D. Vigeland et al.   BIOINFORMATICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Mongersen, an Oral SMAD7 Antisense Oligonucleotide, and Crohn’s Disease

(2015) Giovanni Monteleone et al.   NEW ENGLAND JOURNAL OF MEDICINE

TGF- : Duality of Function Between Tumor Prevention and Carcinogenesis

(2014) D. R. Principe et al.   JNCI-Journal of the National Cancer Institute

Impaired glutamate recycling and GluN2B-mediated neuronal calcium overload in mice lacking TGF-β1 in the CNS

(2013) Thomas Koeglsperger et al.   GLIA

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

(2013) Daniel Kotlarz et al.   JOURNAL OF EXPERIMENTAL MEDICINE

viSNE enables visualization of high dimensional single-cell data and reveals phenotypic heterogeneity of leukemia

(2013) El-ad David Amir et al.   NATURE BIOTECHNOLOGY

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Latent TGF-β structure and activation

(2011) Minlong Shi et al.   NATURE

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Two Distinct Regions of Latency-associated Peptide Coordinate Stability of the Latent Transforming Growth Factor-β1 Complex

(2010) Kelly L. Walton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TGF-β and fibrosis in different organs — molecular pathway imprints

(2009) Dirk Pohlers et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

TGF-β Superfamily Signaling in Embryonic Development and Homeostasis

(2009) Mary Y. Wu et al.   DEVELOPMENTAL CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

TGF-β: A Master of All T Cell Trades

(2008) Ming O. Li et al.   CELL