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المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001 -
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المؤلفون: Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad N. Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, John Greinwald, Jeffrey Holt, Makoto Hosoya, Un-Kyung Kim, Ian Krantz, Suzanne Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morín, Cynthia Morton, Hideki Mutai, Arti Pandya, Richard Smith, Mustafa Tekin, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212مصطلحات موضوعية: Disease specific, medicine.medical_specialty, Hearing loss, Molecular pathology, business.industry, Genome, Human, Genetic Variation, Computational biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Human genetics, Article, medicine, Medical genetics, Humans, Genetic Testing, medicine.symptom, business, Hearing Loss, Uncertain significance, Genetics (clinical), Likely pathogenic, Sequence (medicine)
وصف الملف: application/pdf
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المصدر: Medizinische Genetik. 32:109-115
مصطلحات موضوعية: Genetics, business.industry, Hearing loss, Interpretation (philosophy), Medicine, medicine.symptom, business, Gene, Genetics (clinical), Human genetics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3621c2e6a89a457795940c0a6584bf52
https://doi.org/10.1515/medgen-2020-2018 -
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المؤلفون: Heidi L. Rehm, Nicole J. Boczek, Margaret A. Kenna, Emma H. Wilcox, Rebecca K. Siegert, Hela Azaiez, Kevin T. Booth, Mayher J. Patel, Kiyomitsu Nara, Andrew J. Griffith, Hannie Kremer, Brandon J. Cushman, Marina T. DiStefano, Andrea M. Oza, Sarah E. Hemphill, Ahmad N. Abou Tayoun, Lisa A. Schimmenti, Andrew R. Grant, Jun Shen, Sami S. Amr, Alex Chapin, Karen B. Avraham, Madeline Y. Hughes
مصطلحات موضوعية: Disease specific, medicine.medical_specialty, Likely benign, business.industry, Hearing loss, medicine, Medical genetics, Computational biology, medicine.symptom, business, Likely pathogenic, Sequence (medicine)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::44f8081fed601280b3a27a458812f975
https://doi.org/10.1101/2021.01.27.21250652 -
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المؤلفون: Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
المساهمون: ClinGen Hearing Loss Clinical Domain Working Group
المصدر: Genetics in Medicine, 21, 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247مصطلحات موضوعية: ClinGen, Hearing loss, Medical laboratory, Computational biology, Disease, Deafness, gene curation, Genome, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, genetic diagnosis, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Humans, Medicine, Genetic Testing, Hearing Loss, Biology, Gene, Genetics (clinical), Data Curation, 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, Genome, Human, business.industry, Genetic Variation, Reproducibility of Results, Genomics, Medical decision making, Human genetics, Mutation, Clinical validity, Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: pdf
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المؤلفون: Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
المصدر: Genetics in Medicine. 21:2409
مصطلحات موضوعية: medicine.medical_specialty, Text mining, business.industry, Hearing loss, Published Erratum, Clinical validity, MEDLINE, medicine, Disease, Audiology, medicine.symptom, business, Genetics (clinical)