Last Updated: 09/26/2026
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Found 40 publications
23andMe markets carrier screening service directly to consumers: Service offers results on carrier status, raises concerns among geneticists.
Journal: American journal of medical genetics. Part A
Published: January 26, 2016
Dual testing strategy in autism increases diagnostic yield: Chromosomal microarray and whole-exome sequencing combination may be best for children with multiple physical anomalies, study suggests.
Journal: American journal of medical genetics. Part A
Published: January 16, 2016
Sweeping changes proposed for "Common rule": Update would require mandatory informed consent for use of human biospecimens in research.
Journal: American journal of medical genetics. Part A
Published: January 16, 2016
Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients: Studies explore impact of unbalanced amino acid formulation on growth, brain development.
Journal: American journal of medical genetics. Part A
Published: January 16, 2016
Autism in siblings often caused by different faulty genes, study says.
Journal: American journal of medical genetics. Part A
Published: April 18, 2015
Federal plan to advance targeted disease treatment unclear on benefits for children with rare diseases.
Journal: American journal of medical genetics. Part A
Published: April 18, 2015
Benefits of genomic sequencing evident in pediatric diagnoses: recent study finds testing method less costly, more effective than other medical, genetic tests.
Journal: American journal of medical genetics. Part A
Published: February 19, 2015
Research delves into role of key proteins in fragile X syndrome: study explores relationship between enzymes, FXS symptoms; identifies candidate drug for targeted treatment.
Journal: American journal of medical genetics. Part A
Published: February 19, 2015
FDA proposes tighter regulation over genetic lab tests: federal agency cites need to improve test quality, minimize risk to patients.
Journal: American journal of medical genetics. Part A
Published: January 22, 2015
Whole-exome sequencing effective at diagnosing elusive genetic disorders: tests diagnose about 25% of patients, find a variety of mutation types.
Journal: American journal of medical genetics. Part A
Published: January 22, 2015
Higher prevalence of immune deficiency syndrome found in infants: study finds nearly twice as many newborns affected by severe combined immunodeficiency than previous research had estimated.
Journal: American journal of medical genetics. Part A
Published: November 18, 2014
Somatic mosaicism in parents may cause single-gene disorders in children: latest study calculates incidence of parental mosaicism higher than previous research suggests.
Journal: American journal of medical genetics. Part A
Published: October 21, 2014
Last Updated: 09/26/2026