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Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
ClinGen | RASopathy | Ras/MAPK | Noonan | variant interpretation | Genomics | Genes | MAPK | Ras
Journal Article
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1668 - 1676
GenomeConnect, the NIH-funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic... 
Variant Interpretation | Genomic Data Sharing | Patient Registry | Matchmaking | ClinGen | ClinVar
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 987 - 993
The Clinical Genome Resource (ClinGen) is supported by the National Institutes of Health (NIH) to develop expertly curated and freely accessible resources... 
genomic medicine | ClinGen | expert curation | FRAMEWORK | GENETICS & HEREDITY | Expert Curation | Genomic Medicine
Journal Article
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, ISSN 0317-1671, 01/2020, Volume 47, Issue 1, pp. 61 - 68
Background: Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has... 
Next-generation sequencing | Gene panel sequencing | Epilepsy | CLINGEN | MEDICAL GENETICS | OUTCOMES | Implementation | CLINICAL NEUROLOGY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1507 - 1516
Purpose: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity... 
cancer | NGS | validity | classification | ClinGen | ASSOCIATIONS | GENETICS & HEREDITY | GERMLINE MUTATIONS | HPMS2 | PREVALENCE
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
NOONAN SYNDROME | ClinGen | RASopathy | Noonan | variant interpretation | GUIDELINES | GENETICS & HEREDITY | LABORATORIES | MUTATIONS | Ras/MAPK | Genetic Variation | United States | Gene Frequency | Humans | High-Throughput Nucleotide Sequencing | Software | Mutation | Genomics - methods | Genetic Testing - methods | Genome, Human - genetics | Information Dissemination
Journal Article
Genetics in medicine, ISSN 1098-3600, 2018, Volume 20, Issue 3, pp. 351 - 359
Journal Article
by DiStefano, Marina T and Hemphill, Sarah E and Oza, Andrea M and Siegert, Rebecca K and Grant, Andrew R and Hughes, Madeline Y and Cushman, Brandon J and Azaiez, Hela and Booth, Kevin T and Chapin, Alex and Duzkale, Hatice and Matsunaga, Tatsuo and Shen, Jun and Zhang, Wenying and Kenna, Margaret and Schimmenti, Lisa A and Tekin, Mustafa and Rehm, Heidi L and Tayoun, Ahmad N. Abou and Amr, Sami S and Abdelhak, Sonia and Alexander, John and Avraham, Karen and Bhatia, Neha and Bai, Donglin and Boczek, Nicole and Brownstein, Zippora and Burt, Rachel and Bylstra, Yasmin and del Castillo, Ignacio and Choi, Byung Yoon and Downie, Lilian and Friedman, Thomas and Giersch, Anne and Goh, Jasmine and Greinwald, John and Griffith, Andrew J and Hernandez, Amy and Holt, Jeffrey and Hosoya, Makoto and Ying, Lim Jiin and Jain, Kanika and Kim, Un-Kyung and Kremer, Hannie and Krantz, Ian and Leal, Suzanne and Lewis, Morag and Liu, Xue Zhong and Low, Wendy and Lu, Yu and Luo, Minjie and Masmoudi, Saber and Ming, Tan Yuen and Moreno-Pelayo, Miguel Angel and Morín, Matías and Morton, Cynthia and Murray, Jaclyn and Mutai, Hideki and Nara, Kiyomitsu and Pandya, Arti and Pei-Rong, Sylvia Kam and Smith, Richard J. H and Jamuar, Saumya Shekhar and Suer, Funda Elif and Usami, Shin-Ichi and Van Camp, Guy and Yamazawa, Kazuki and Yuan, Hui-Jun and Black-Zeigelbein, Elizabeth and Zhang, Keijan and ClinGen Hearing Loss Clinical Doma and ClinGen Hearing Loss Clinical Domain Working Group and on behalf of the ClinGen Hearing Loss Clinical Domain Working Group
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2239 - 2247
Purpose: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental... 
genetic diagnosis | hearing loss | deafness | ClinGen | gene curation | DIAGNOSIS | GUIDELINES | GENETICS & HEREDITY | DEAFNESS DFNB12 | ENLARGEMENT | KALLMANN-SYNDROME | MUTATIONS
Journal Article
Journal Article
MEDICAL CLINICS OF NORTH AMERICA, ISSN 0025-7125, 11/2019, Volume 103, Issue 6, pp. 967 - 967
Historically, both pretest and posttest genetic counseling has been standard of care for genetic testing. This model should be adapted for primary care... 
MEDICINE, GENERAL & INTERNAL | VARIANTS | ClinGen | CADRe | Informed consent | Genomic testing | MEDICAL GENETICS | Genetic testing | Return of results | CANCER
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1497 - 1506
Purpose: Several genes on hereditary breast and ovarian cancer susceptibility test panels have not been systematically examined for strength of association... 
hereditary breast and ovarian cancer | classification | ClinGen | gene validity | gene test panels | ASSOCIATIONS | NEOPLASMS | TUMOR | WOMEN | GERMLINE RECQL MUTATIONS | INCREASED RISK | PREDISPOSITION | GENETICS & HEREDITY | NEUROFIBROMATOSIS TYPE-1
Journal Article
Journal Article