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Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1240 - 1245
Purpose: Clinical exome and gene panel testing can provide molecular diagnoses for patients with rare Mendelian disorders, but for many patients these tests... 
epilepsy | alternative transcripts | exome sequencing | gene panel testing | diagnostic yield | GENETICS & HEREDITY
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 7/2015, Volume 152, Issue 1, pp. 129 - 136
Journal Article
Journal Article
Journal of Molecular Diagnostics, The, ISSN 1525-1578, 2016, Volume 18, Issue 6, pp. 923 - 932
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 210 - 219
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since... 
Original Article | Epileptic encephalopathies | Familial epilepsies | Gene panel testing | Seizures | Original
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 12/2016, Volume 160, Issue 3, pp. 393 - 410
Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals... 
BRCA | Breast and ovarian cancer | Medicine & Public Health | Surveillance | Multiple-gene panel testing | Oncology | Cancer genetic counseling | Genetic counselors | LYNCH-SYNDROME | PEUTZ-JEGHERS-SYNDROME | REVISED BETHESDA GUIDELINES | CLINICAL CHARACTERISTICS | HEREDITARY COLORECTAL-CANCER | ONCOLOGY | INCREASED RISK | SOCIETY TASK-FORCE | ATM GENE | DIFFUSE GASTRIC-CANCER | BRCA2 MUTATION | Breast Neoplasms, Male - genetics | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Humans | Male | Biomarkers, Tumor | Genetic Testing - methods | Breast Neoplasms - therapy | Ovarian Neoplasms - genetics | Hereditary Breast and Ovarian Cancer Syndrome - therapy | Genes, BRCA2 | Germ-Line Mutation | Female | Genes, BRCA1 | Stomach Neoplasms - genetics | Breast Neoplasms, Male - diagnosis | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Genetic Predisposition to Disease | Stomach Neoplasms - diagnosis | Ovarian Neoplasms - prevention & control | Fanconi Anemia Complementation Group N Protein - genetics | Ovarian Neoplasms - diagnosis | Stomach Neoplasms - therapy | Penetrance | Breast Neoplasms - prevention & control | Breast Neoplasms - genetics | Breast Neoplasms, Male - therapy | Stomach Neoplasms - prevention & control | Ovarian Neoplasms - therapy | Breast Neoplasms - diagnosis | Disease Management | Mutation | Medical research | Care and treatment | Breast cancer | Disease susceptibility | Patients | Genetic screening | Ovarian cancer | Cancer patients | Risk assessment | Medicine, Experimental | Genetic aspects | Tumor proteins | Cancer
Journal Article
Journal of AAPOS, ISSN 1091-8531, 06/2019, Volume 23, Issue 3, pp. 163 - 165.e1
Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions.... 
PHENOTYPE | OPHTHALMOLOGY | PEDIATRICS | GENOTYPE | DISEASE | Medical research | Analysis | Genes | Medical genetics | Genetic research | Medicine, Experimental | Pediatric ophthalmology | Index Medicus
Journal Article
Modern Pathology, ISSN 0893-3952, 11/2016, Volume 29, Issue 11, pp. 1381 - 1389
Journal Article