Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity

(2011) Melissa T. Carter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The microcephaly-capillary malformation syndrome

(2011) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

(2011) Melissa T. Carter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

(2011) Bertrand Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AMSH is required to degrade ubiquitinated proteins in the central nervous system

(2011) Shunya Suzuki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Regulation of Endocytic Sorting by ESCRT–DUB-Mediated Deubiquitination

(2011) Michelle H. Wright et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Structural and Thermodynamic Comparison of the Catalytic Domain of AMSH and AMSH-LP: Nearly Identical Fold but Different Stability

(2011) Christopher W. Davies et al.   JOURNAL OF MOLECULAR BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

AMSH Interacts with ESCRT-0 to Regulate the Stability and Trafficking of CXCR4

(2010) Maria I. Sierra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Defining the Human Deubiquitinating Enzyme Interaction Landscape

(2009) Mathew E. Sowa et al.   CELL

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE