Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

(2011) Christopher Konialis et al.   PRENATAL DIAGNOSIS

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

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

(2010) David D. Weaver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

(2010) Veronica Parri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Molecular analysis of T-B-NK+severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

(2009) Osama Alsmadi et al.   BMC Medical Genetics

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

(2009) A Orrico et al.   CLINICAL GENETICS

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

The most frequentDCLRE1C(ARTEMIS) mutations are based on homologous recombination events

(2009) Ulrich Pannicke et al.   HUMAN MUTATION

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

(2009) Lourdes R. Desviat et al.   MOLECULAR GENETICS AND METABOLISM

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

(2008) David O. Robinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

(2008) P. R. Joshi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome

(2008) M S Orloff et al.   ONCOGENE

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas

(2007) Ivy Jennes et al.   JOURNAL OF MOLECULAR DIAGNOSTICS