KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

Systematic Identification of Host Cell Regulators of Legionella pneumophila Pathogenesis Using a Genome-wide CRISPR Screen

(2019) Edwin E. Jeng et al.   Cell Host & Microbe

Mutations in KIAA1109, CACNA1C, BSN, AKAP13, CELSR2, and HELZ2 Are Associated With the Prognosis in Endometrial Cancer

(2019) Zhiwei Qiao et al.   Frontiers in Genetics

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

(2019) Sara Cabet et al.   PRENATAL DIAGNOSIS

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

(2018) Lucie Gueneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

(2018) Malin Kvarnung et al.   CLINICAL GENETICS

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome

(2018) Alexandra Filatova et al.   CLINICAL GENETICS

Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study

(2018) Nick Shrine et al.   Lancet Respiratory Medicine

Molecular autopsy in maternal–fetal medicine

(2017) Hanan E Shamseldin et al.   GENETICS IN MEDICINE

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability

(2017) Babylakshmi Muthusamy et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Association of rs6822844 within the KIAA1109/TENR/IL2/IL21 locus with rheumatoid arthritis in the Algerian population

(2016) S. Louahchi et al.   HLA

Association of 32 type 1 diabetes risk loci in Pakistani patients

(2015) Aysha Karim Kiani et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

A draft map of the human proteome

(2014) Min-Sik Kim et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

(2013) Klaus Bønnelykke et al.   NATURE GENETICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Analysis of IL2/IL21 Gene Variants in Cholestatic Liver Diseases Reveals an Association with Primary Sclerosing Cholangitis

(2011) Johannes Stallhofer et al.   DIGESTION

Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes

(2011) L. Plaza-Izurieta et al.   JOURNAL OF MEDICAL GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 4q27 locus and prostate cancer risk

(2010) Elizabeth A Tindall et al.   BMC CANCER

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

Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease

(2009) Jürgen Glas et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Tweek, an Evolutionarily Conserved Protein, Is Required for Synaptic Vesicle Recycling

(2009) Patrik Verstreken et al.   NEURON

Genome-wide association scan in psoriasis: new insights into chronic inflammatory disease

(2008) Steven J Schrodi   Expert Review of Clinical Immunology