المؤلفون: Megan Judkins, Samuel Cox, Krista Moyer

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101579- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007258; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ff911132f6ec47799520f565088be93b

المؤلفون: Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

مصطلحات موضوعية: carrier screening, HEXA enzyme testing, Tay‐Sachs disease, variant interpretation, VUS reclassification, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/f54cb151ac62460c8e3c972f6df6730b

المؤلفون: Kwong Wai Choy, Gema Garrido, Rebecca K. Siegert, Yoel Hirsch, Andrew R. Grant, Yu Lu, Alecia Willis, Hatice Duzkale, Lisa Schimmenti, Xue Zhong Liu, Krista Moyer, Hela Azaiez, Rebecca Mar-Heyming, Richard Smith, Narasimhan Nagan, Christine Lo, Xinhua Hu, Ahmad N. Abou Tayoun, Hyunseok Kang, Sarah E. Hemphill, Cynthia C. Morton, Yan Zhang, Yen-Fu Cheng, Huijun Yuan, Kevin T. Booth, Anne Giersch, Moshe Frydman, Tatsuo Matsunaga, Jun Shen, John H. Greinwald, Tzvi Weiden, Saurav Guha, Ye Cao, Hideki Mutai, Yukun Zeng, Arti Pandya, John J. Alexander, Lina Basel-Salmon, Marina T. DiStefano, Margaret A. Kenna, Zippora Brownstein, Ignacio del Castillo, Kejian Zhang, Bella Davidov, Sami S. Amr, Minjie Luo, Karen B. Avraham, Andrea M. Oza, Mustafa Tekin, Miguel A. Moreno-Pelayo, Heidi L. Rehm

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: ClinGen, Male, Hearing loss, Hearing Loss, Sensorineural, Population, Deafness, Compound heterozygosity, Polymorphism, Single Nucleotide, Article, Connexins, Statistical analyses, otorhinolaryngologic diseases, medicine, Humans, Allele, variant classification, Hearing Loss, education, Alleles, Genetics (clinical), Genetics, education.field_of_study, incomplete penetrance, business.industry, variant interpretation, Expert consensus, medicine.disease, Penetrance, Connexin 26, Case-Control Studies, Mutation, Female, Sensorineural hearing loss, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a370c81d0cb17c49455b0a172f802944
https://doi.org/10.1038/s41436-019-0535-9

المؤلفون: Krista Moyer, Elizabeth Collins, Christine Lo, Dale Muzzey, Hyunseok Kang, Kristjan Eerik Kaseniit, Rebecca Mar-Heyming

المصدر: Clinical Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Concordance, expanded carrier screening, Large population, Computational biology, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Sensitivity and Specificity, 03 medical and health sciences, Gene Frequency, clinical validity, Genetics, Medicine, Humans, Genetic Testing, variant classification, Genetics (clinical), Alleles, business.industry, variant interpretation, Genetic Carrier Screening, Computational Biology, Genetic Variation, Reproducibility of Results, ClinVar, Molecular Sequence Annotation, Guideline, Original Articles, 030104 developmental biology, Clinical validity, Original Article, Female, Carrier screening, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba9e8fa9bb109d89de62a02ab3fcd94a
http://europepmc.org/articles/PMC6852020

المؤلفون: Ashley Acevedo, Samuel Cox, Heather Labreche, Maria Alfaro, Summer Pierson, Susan Hancock, Krista Moyer, Jo Yeleswarapu, Sun Hong, Kevin Haas, Dale Muzzey

المصدر: Genetics in Medicine. 24:S278

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6751b7b67e9a03f8d1d450ac8b0cc09f
https://doi.org/10.1016/j.gim.2022.01.476

المؤلفون: Avni Santani, Stefan Rentas, Eija H. Seppälä, Steven M. Harrison, Lisa M. Vincent, Andrew S. McFaddin, Christin D. Collins, Juha Koskenvuo, Brian H. Shirts, Hane Lee, Rong Mao, Scott Topper, Soma Das, Olga Jarinova, Wenjie Chen, Heidi L. Rehm, Krista Moyer, Rebecca Mar-Heyming, John Garcia, Kathy M. B. Vinette, Kathryn B. Garber, Joshua L. Deignan, Amy E. Knight Johnson, Timothy Tidwell, Narasimhan Nagan, Jill S. Dolinksy

المصدر: Human Mutation. 39:1641-1649

مصطلحات موضوعية: 0301 basic medicine, Genome, Human, business.industry, Genetic Variation, Biology, computer.software_genre, Article, Majority consensus, 03 medical and health sciences, 030104 developmental biology, Databases, Genetic, Outlier, Genetics, Humans, Genetic Testing, Artificial intelligence, business, computer, Genetics (clinical), Natural language processing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870f174084982c589fbfe3660e785533
https://doi.org/10.1002/humu.23643

المؤلفون: Ashley Acevedo, Samuel Cox, Heather LaBreche, Maria Alfaro, Summer Pierson, Susan Hancock, Krista Moyer, Sri Jyothsna Yeleswarapu, Sun Hae Hong, Kevin Haas, Dale Muzzey

المصدر: American Journal of Obstetrics and Gynecology. 226:S433

مصطلحات موضوعية: Obstetrics and Gynecology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fdcc5874c9c719ecc88c16b03430d4c3
https://doi.org/10.1016/j.ajog.2021.11.719

المؤلفون: Marie Balzotti, Linyan Meng, Dale Muzzey, Katherine Johansen Taber, Kyle Beauchamp, Myriad Genetics Curation Team, Baylor Genetics Curation Team, Rebecca Mar‐Heyming, Bethany Buckley, Krista Moyer

المصدر: Human Mutation. 41

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::53306ed3f0a1b00afaca33f35f090778
https://doi.org/10.1002/humu.24086

المؤلفون: Kristjan Eerik Kaseniit, Patricia Z. Page, Laura A. Kiger, Alana C. Cecchi, Dale Muzzey, Krista Moyer, Elizabeth S. Vengoechea, Imran S. Haque, Nikita Mehta, Karen A. Grinzaid, Melanie W Hardy

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, beta-Hexosaminidase alpha Chain, lcsh:QH426-470, Population, Genetic Counseling, carrier screening, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Cohort Studies, 03 medical and health sciences, Ethnicity, Genetics, medicine, Humans, Coding region, False Positive Reactions, Allele, education, False Negative Reactions, Molecular Biology, Genetics (clinical), Exome sequencing, Enzyme Assays, Retrospective Studies, education.field_of_study, Tay-Sachs Disease, Tay‐Sachs disease, biology, Genetic Carrier Screening, variant interpretation, Tay-Sachs disease, High-Throughput Nucleotide Sequencing, HEXA enzyme testing, Original Articles, VUS reclassification, medicine.disease, HEXA, Enzyme assay, lcsh:Genetics, 030104 developmental biology, Mutation, Practice Guidelines as Topic, Pseudodeficiency alleles, biology.protein, Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43e62c3e549f39098d54c711a2f1961
https://doi.org/10.1002/mgg3.836

المؤلفون: Hyunseok P. Kang, Christine Lo, Rebecca Mar-Heyming, Krista Moyer, Elizabeth Collins, Kristjan Eerik Kaseniit, Dale Muzzey

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Concordance, Clinical validity, Medicine, Medical physics, business, Carrier screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c8245ff3afbf5b26f113193e90a4cfc3
https://doi.org/10.1111/cge.13582/v2/response1