Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Clinical genetics of spondylocostal dysostosis: A mini review
Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae
malformations. In recent years, extensive clinical and molecular diagnosis advancements …
malformations. In recent years, extensive clinical and molecular diagnosis advancements …
Clan genomics: From OMIM phenotypic traits to genes and biology
JR Lupski - American Journal of Medical Genetics Part A, 2021 - Wiley Online Library
Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
Prenatal diagnosis of fetuses with increased nuchal translucency by genome sequencing analysis
Background: Increased nuchal translucency (NT) is an important biomarker associated with
increased risk of fetal structural anomalies. It is known to be contributed by a wide range of …
increased risk of fetal structural anomalies. It is known to be contributed by a wide range of …
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital
absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait …
absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait …
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are
associated with significant health problems including congenital scoliosis (CS) and recurrent …
associated with significant health problems including congenital scoliosis (CS) and recurrent …
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine
Abstract Congenital vertebral malformation, affecting 0.13–0.50 per 1000 live births, has an
immense locus heterogeneity and complex genetic architecture. In this study, we analyze …
immense locus heterogeneity and complex genetic architecture. In this study, we analyze …
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Background Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10
years, conveys significant health risk to affected children. Identification of the molecular …
years, conveys significant health risk to affected children. Identification of the molecular …
The pleiotropic spectrum of proximal 16p11. 2 CNVs
Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
A genocentric approach to discovery of Mendelian disorders
The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of
genetic data from thousands of samples from individuals affected with a wide range of …
genetic data from thousands of samples from individuals affected with a wide range of …