Prenatal diagnosis by chromosomal microarray analysis
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …
Human structural variation: mechanisms of chromosome rearrangements
B Weckselblatt, MK Rudd - Trends in Genetics, 2015 - cell.com
Chromosome structural variation (SV) is a normal part of variation in the human genome, but
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …
some classes of SV can cause neurodevelopmental disorders. Analysis of the DNA …
Chromosomal microarray versus karyotyping for prenatal diagnosis
Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for
the evaluation of developmental delay and structural malformations in children. We aimed to …
the evaluation of developmental delay and structural malformations in children. We aimed to …
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal… - Cell, 2012 - cell.com
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …
Towards a comprehensive structural variation map of an individual human genome
Background Several genomes have now been sequenced, with millions of genetic variants
annotated. While significant progress has been made in mapping single nucleotide …
annotated. While significant progress has been made in mapping single nucleotide …
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene
Context Whole-genome sequencing is becoming increasingly available for research
purposes, but it has not yet been routinely used for clinical diagnosis. Objective To …
purposes, but it has not yet been routinely used for clinical diagnosis. Objective To …
The genetics of isolated orofacial clefts: from genotypes to subphenotypes
A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …
congenital malformations in humans. They require complex multidisciplinary treatment and …
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and …
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide
resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …
resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
By defining the chromosomal breakpoint of a balanced t (10; 12) translocation from a subject
with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal …
with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal …