Treatment of ARS deficiencies with specific amino acids
...Published in Genetics in Medicine
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity
Published in Genetics in Medicine
Purpose It is critical to identify putative causal targets for SARS coronavirus 2, which may guide drug repurposing options to reduce the public health burden of COVID-19. Methods We applied complementary methods and multiphased design to pinpoint the most likely causal genes for COVID-19 severity. First, we applied cross-methylome omnibus (CMO) te...
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seiz...
...Published in Genetics in medicine : official journal of the American College of Medical Genetics
The endoplasmic reticulum membrane complex (EMC) is a highly conserved, multifunctional 10-protein complex related to membrane protein biology. In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10. Using exome, genome, and Sanger sequencing, a recurre...
Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into dev...
Published in Genetics in medicine : official journal of the American College of Medical Genetics
The clinical and psychosocial outcomes associated with receiving a genetic diagnosis for developmental disorders are wide-ranging but under-studied. We sought to investigate outcomes from a subset of families who received a diagnosis through the Deciphering Developmental Disorders (DDD) study. Individuals recruited through the Peninsula Clinical Ge...
Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection
...Published in Genetics in Medicine
Purpose The PhenX Toolkit ( www.phenxtoolkit.org ), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope: genomic knowledge and education (both patients...
The 2019 US medical genetics workforce: a focus on clinical genetics
...Published in Genetics in Medicine
Purpose This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. Methods A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing c...
Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVI...
...Published in Genetics in Medicine
Purpose To identify predictors of patient acceptance of non-in-person cancer genetic visits before and after the COVID-19 pandemic and assess the preferences of health-care professionals. Methods Prospective multicenter cohort study ( N = 578, 1 February 2018–20 April 2019) and recontacted during the COVID-19 lockdown in April 2020. Health-care pro...
Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic
Published in Genetics in Medicine
Purpose The COVID-19 pandemic has forced reorganization of clinical services to minimize face-to-face contact between patients and health-care providers. Specialist services, including clinical genetics, must consider methods of remote delivery including videoconferencing—termed telegenetics. This review evaluates the evidence for telegenetics and ...
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative.
...Published in Genetics in medicine : official journal of the American College of Medical Genetics
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in cl...
...Published in Genetics in Medicine
Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test...
