Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

(2014) Lisa Gfrerer et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

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

(2012) Pablo Cingolani et al.   FLY

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

(2011) Irfan Saadi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome

(2010) Juliet Taylor et al.   CLINICAL DYSMORPHOLOGY

Male to male transmission of the G syndrome

(2010) Peter A. Farndon et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS