Genetics in Medicine
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NCI think tank concerning the identifiability of biospecimens and "omic" data.
The first day involved presentations regarding the state of the science of reidentification; current and proposed regulatory frameworks for assessing identifiability; developments in law, industry, and biotechnology; and the expectations of patients and research participants. The second day was spen...
Renal growth in isolated methylmalonic acidemia.
Comparisons with age-matched controls showed that renal length in subjects with methylmalonic acidemia was significantly decreased (P < 0.05). Stepwise regression modeling found that combinations of height, serum cystatin C, and serum methymalonic acid concentrations best predicted kidney size. The r...
Morbidity and mortality in type B Niemann-Pick disease.
The purpose of this study was to perform a systematic evaluation of morbidity and mortality in type B Niemann-Pick disease. A total of 103 patients with Niemann-Pick disease (49 males, 54 females, age range: 1-72 years) participated in natural history studies through Mount Sinai's International Cent...
What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report.
Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public's understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research I...
Estimates of penetrance for recurrent pathogenic copy-number variations.
We sought to provide empiric estimates for penetrance for some of these recurrent, disease-susceptibility loci. We conducted a Bayesian analysis, based on the copy-number variation frequencies in control populations (n = 22,246) and in our database of >48,000 postnatal microarray-based comparative g...
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-b...
We suggest that such research should consider interventions at both the level of the health system (e.g., early detection through newborn screening, programs to provide access to treatments) and the level of individual patient care (e.g., orphan drugs, medical foods). We have developed a practice-ba...
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.
We retrospectively analyzed 267 premutation alleles for number and position of AGG interruptions, length of pure CGG repeats, and CGG repeat lengths present in the offspring of the maternal transmissions. In addition, we determined the haplotypes of four markers flanking the 5'-UTR locus in the prem...
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutations and those with PTEN mutations. Urine and blood were collected from individuals meeting full or partial Cowden syndrome diagnostic criteria or those with paraganglioma (PGL) or a known susceptibili...
Enhancing exposure to genetics and genomics through an innovative medical school curriculum
: This track runs in parallel to the existing 4-year curriculum and includes didactic sessions, small group discussions, longitudinal clinical experiences, clinical and laboratory rotations, community outreach, and scholarly projects related to genetics. It also provides the students a means to netwo...
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
: The combined mutation carrier rate in Ashkenazi Jews was 1:52, giving an estimated frequency of homozygosity or compound heterozygosity of 1:10,816 in this population. The risk of Focal-CHI is 1:540 per pregnancy in offspring of carrier fathers. CONCLUSION:: We recommend that these mutations be inc...