Last Posted: Jul 28, 2021
- ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion
K Stoll et a, The DNA Exchange, July 2021
- Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.
Dolitsky Shelley et al. F&S reports 2021 1(3) 294-298
- Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.
Carroll June C et al. Canadian family physician Medecin de famille canadien 2021 67(6) e144-e152
- Cascade screening for beta-thalassemia in Pakistan: development, feasibility and acceptability of a decision support intervention for relatives.
Ahmed Shenaz et al. European journal of human genetics : EJHG 2021
- Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt Suzanne C E H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- First French study relative to preconception genetic testing: 1500 general population participants' opinion.
Bonneau Valérie et al. Orphanet journal of rare diseases 2021 16(1) 130
- A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli Babi R R et al. Human mutation 2021
- Discordant Patient and Clinician Perspectives on the Potential Value of Genetic Services in Safety-Net Clinics.
McMullen Carmit et al. Journal of health care for the poor and underserved 2020 31(3) 1347-1363
- Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India.
Pathak Pankaj et al. Journal of neuromuscular diseases 2020 Dec
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty Samya et al. Frontiers in neurology 2020 11559327
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