Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

A mutation ofMET, encoding hepatocyte growth factor receptor, is associated with humanDFNB97hearing loss

(2015) Ghulam Mujtaba et al.   JOURNAL OF MEDICAL GENETICS

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

(2014) Jia-Chi Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

(2014) Sarah M. Al-Qattan et al.   GENETICS IN MEDICINE

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

12q24.33 deletion: Report of a patient with intellectual disability and review of the literature

(2013) Martin Kehrer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

(2013) Yao-Shan Fan et al.   Molecular Cytogenetics

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

(2012) Miroslava Hancarova et al.   GENE

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

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

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation

(2010) Bixia Xiang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS