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Search Results to Stephen Scherer

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One or more keywords matched the following items that are connected to Scherer, Stephen

Item TypeName
Concept Genetic Testing
Academic Article Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
Academic Article An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Academic Article Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Academic Article Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Academic Article Whole genome scanning: resolving clinical diagnosis and management amidst complex data.
Academic Article Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Academic Article Genetic architecture in autism spectrum disorder.
Academic Article Evaluating genetic counseling for individuals with schizophrenia in the molecular age.
Academic Article HGV2012: leveraging next-generation technology and large datasets to advance disease research.
Academic Article Autism spectrum disorder in the genetics clinic: a review.
Academic Article Autism spectrum disorder: advances in evidence-based practice.
Academic Article Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.
Academic Article Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Academic Article Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Academic Article Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Academic Article Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Academic Article Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Academic Article Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Academic Article Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Academic Article Identification of new and common mutations in the EPM2A gene in Lafora disease.
Academic Article Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Academic Article Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Academic Article Association between distress and knowledge among parents of autistic children.

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  • Genetic Testing