Take a closer look at our publications We have a wide range of studies authored by our own scientists and clinicians - in collaboration with clinicians and top researchers in functional genomics and genetic testing. February 02, 2021 | JAMA Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy Among patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients. February 01, 2021 | European Journal of Human Genetics Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis This growing case series suggests that variants in WNT2B are associated with an oculo-intestinal (and possibly gonadal) syndrome, due to the protein’s putative involvement in multiple developmental and stem cell maintenance pathways. January 28, 2021 | American Journal of Human Genetics Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. January 25, 2021 | Genetics in Medicine Uniparental disomy in a population of 32,067 clinical exome trios Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis. January 25, 2021 | Genetics in Medicine CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants CDK19 de novo missense variants are responsible for a novel neurodevelopmental disorder. January 20, 2021 | Genetics in Medicine Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features. January 07, 2021 | American Journal of Human Genetics De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy We expand the spectrum of disorders associated with pathogenic variants in POLR3B to include a de novo heterozygous POLR3B-related disorder. January 07, 2021 | American Journal of Human Genetics A dyadic approach to the delineation of diagnostic entities in clinical genomics The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders. January 06, 2021 | Epilepsia Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Further delineation of the molecular spectrum of PIGS-related disorders would improve management, help develop treatments, and encourage the expansion of diagnostic genetic testing to include this gene as a potential cause of neurodevelopmental disorders and epilepsy. December 29, 2020 | Endocrinology, Diabetes, & Metabolism Case Reports A SOX5 gene variant as a possible contributor to short stature Although SOX5 has not been previously specifically associated with short stature, several evidences support its contributing effect on dyschondrogenesis. Missense variants in SOX5 gene may lead to mild phenotypes, differing from typical presentation of patients with Lamb-Shaffer syndrome. LOAD MORE BACK TO TOP © 2021 GeneDx, Inc All rights reserved. Licenses & Certifications Privacy Cookie Settings