Identification of a novel MKS locus defined byTMEM107mutation

Primordial dwarfism

(2015) Fowzan S. Alkuraya   Current Opinion in Endocrinology Diabetes and Obesity

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Genetics and genomic medicine in Saudi Arabia

(2014) Fowzan S. Alkuraya   Molecular Genetics & Genomic Medicine

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding Horizons: Ciliary Proteins Reach Beyond Cilia

(2013) Shiaulou Yuan et al.   Annual Review of Genetics

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Mutations inTMEM231cause Meckel–Gruber syndrome

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome

(2013) Ranad Shaheen et al.   NEUROGENETICS

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

(2012) Kasey J. Christopher et al.   DEVELOPMENTAL BIOLOGY

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characterization of Joubert syndrome in Saudi Arabia

(2012) Anas M. Alazami et al.   HUMAN MUTATION

Hooked! Modeling human disease in zebrafish

(2012) Cristina Santoriello et al.   JOURNAL OF CLINICAL INVESTIGATION

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

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

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