about
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneGenome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysLoss of δ-catenin function in severe autismRefinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombinationA genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataGenetic relationship between five psychiatric disorders estimated from genome-wide SNPsGenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeClinGen--the Clinical Genome ResourceTowards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesThe evolutionary origin of human subtelomeric homologies--or where the ends beginBehavioral characterization of a white-throated sparrow homozygous for the ZAL2(m) chromosomal rearrangement.Common genetic variants, acting additively, are a major source of risk for autismThe cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.Diagnostic interpretation of array data using public databases and internet sources.Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delayComparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriagesEvolution of a bitter taste receptor gene cluster in a New World sparrow.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9pAn evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Diverse fates of paralogs following segmental duplication of telomeric genes.Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.Haplotype-based genomic sequencing of a chromosomal polymorphism in the white-throated sparrow (Zonotrichia albicollis)Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Molecular cytogenetic analysis of telomere rearrangements.Copy number variants, aneuploidies, and human diseaseSignal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cellsGenetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.Using ClinVar as a Resource to Support Variant InterpretationThe influence of clinical and demographic risk factors on the establishment of head and neck squamous cell carcinoma cell lines.A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.Chromosomal microarray versus karyotyping for prenatal diagnosis.Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
P50
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P50
name
Christa Lese Martin
@ast
Christa Lese Martin
@en
Christa Lese Martin
@es
Christa Lese Martin
@nl
type
label
Christa Lese Martin
@ast
Christa Lese Martin
@en
Christa Lese Martin
@es
Christa Lese Martin
@nl
prefLabel
Christa Lese Martin
@ast
Christa Lese Martin
@en
Christa Lese Martin
@es
Christa Lese Martin
@nl