Santos syndrome is caused by mutation in the WNT7A gene

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

(2013) M.M. Al-Qattan   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

(2013) Mohammad M. AlQattan et al.   GENE

Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern Brazil

(2012) Mathias Weller et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

The WNT7A G204S mutation is associated with both Al-Awadi–Raas Rothschild syndrome and Fuhrmann syndrome phenotypes

(2012) M.M. Al-Qattan et al.   GENE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

(2011) Wafaa Eyaid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

(2010) Livia Garavelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

(2010) Piranit N. Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

(2010) M. Genuardi et al.   CLINICAL GENETICS

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

(2010) Silvana Santos et al.   GENETICS AND MOLECULAR BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B

(2010) Bing Wang et al.   HUMAN MOLECULAR 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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

(2008) Silvana C. Santos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A