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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. i - i
The cover image, by Michael J. Bamshad et al., is based on the Introduction. Genetic counselors on the frontline of precision health, DOI: 10.1002/ajmg.c.31610. 
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 10 - 14
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 01/2017, Volume 28, Issue 3, pp. e258 - e260
Nemaline myopathy (NM) is a rare congenital muscular disease characterized by the presence of rod (nemaline) bodies visualized on muscle biopsy. The disease is... 
Nemaline myopathy | Nemaline bodies | Craniofacial dysmorphism | SURGERY | nemaline myopathy | ADOLESCENTS | MUSCULAR-DYSTROPHY | nemaline bodies | CONGENITAL MYOPATHIES | MYOTONIC-DYSTROPHY | CHILDREN | Child, Preschool | Male | Craniofacial Abnormalities - etiology | Myopathies, Nemaline - complications | Craniofacial Abnormalities - diagnosis | Humans
Journal Article
Pediatrics, ISSN 0031-4005, 2014, Volume 134, Issue 4, pp. e1149 - e1162
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 54 - 62
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 5 - 9
By enabling precise genetic diagnosis and treatment there is great potential for inexpensive, accurate, and widely accessible genomic information to transform... 
GENETICS & HEREDITY | Genetic research | Analysis | Health care reform | Medical genetics | Health care | Genetic counseling | Health | Biological evolution | Information processing | Health risks | Occupational health | New technology | Genetic testing | Population genetics | Genetic counselling | Genetic screening
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 89 - 97
Journal Article
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 24 - 37
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 2 - 2
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by... 
MEDICINE, RESEARCH & EXPERIMENTAL | DIAPHRAGMATIC-HERNIA | ARRAY-CGH | COPY NUMBER | DEVELOPMENTAL DELAY | MECHANISMS | MUTATIONS | SPECTRUM | REARRANGEMENTS | STRUCTURAL VARIATION | DELETION | Developmental Disabilities - genetics | Chromosomes, Human, Pair 15 | Humans | Chromosome Aberrations | Care and treatment | Chromosome abnormalities | Prognosis | Diagnosis | Risk factors
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 691 - 707
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 75 - 80
The lack of diversity of populations included in genomics databases is an important inhibitor of genomic discovery from bench to bedside. One way to increase... 
diversity | genetic and genomic research | informed consent | research ethics | recruitment and retention | INFORMED-CONSENT | GENOMICS | GENETICS & HEREDITY | CANCER | Case studies | Genomics | Consortia | Populations | Informed consent | Research | Cancer
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 15 - 23
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2018, Volume 178, Issue 1, pp. 63 - 67
Trying to predict what genetic counseling will look like in the era of precision medicine is a continuous challenge. According to the National Institutes of... 
TESTS | REVOLUTION | GENETICS & HEREDITY | PERSONALIZED MEDICINE | HEALTH-CARE PROFESSIONALS | BREAST | GENOMIC MEDICINE | DELIVERY | Medical genetics | Medicine | Genetic counseling | Precision medicine | Genetic counselling | Medical treatment | Genetic screening
Journal Article