-
1
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 -
2
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
-
3
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
-
4
المؤلفون: Rebecca K. Siegert, Carrie Anne Barry, Kristen Park, Maria Roberta Cilio, Bekim Sadikovic, Ghayda M. Mirzaa, David A. Dyment, Ingo Helbig, Annapurna Poduri, Tristan T. Sands, Karl Martin Klein, Courtney Thaxton, Jacy L. Wagnon, Erin Rooney Riggs, Erika Axeen, Pasquale Striano, Tanya Bardakjian, Katherine L. Helbig, Heather C Mefford, Elizabeth Butler, Khalida Liaquat, Andrew R. Grant
المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique
المصدر: Paediatrics Publications
Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)
Hum Mutatمصطلحات موضوعية: ClinGen/Clinical Genome Resource, 0301 basic medicine, Disease, Computational biology, Biology, Article, gene–disease association, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, clinical validity, Genetics, medicine, Humans, Genetic Testing, epilepsy, epileptic encephalopathy, Gene, Genetics (clinical), Genetic testing, Disease entity, medicine.diagnostic_test, medicine.disease, Phenotype, 030104 developmental biology, Gene selection, Seizure Disorders, Mutation, Gene-disease association, Domain knowledge, 030217 neurology & neurosurgery
وصف الملف: application/pdf
-
5
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 -
6دورية أكاديمية
المؤلفون: Petra Füger, Vrinda Sreekumar, Rebecca Schüle, Jeannine V. Kern, Doychin T. Stanchev, Carola D. Schneider, Kathrin N. Karle, Katharina J. Daub, Vera K. Siegert, Matthias Flötenmeyer, Heinz Schwarz, Ludger Schöls, Tobias M. Rasse
المصدر: PLoS Genetics, Vol 9, Iss 4 (2013)
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Petra Füger, Vrinda Sreekumar, Rebecca Schüle, Jeannine V Kern, Doychin T Stanchev, Carola D Schneider, Kathrin N Karle, Katharina J Daub, Vera K Siegert, Matthias Flötenmeyer, Heinz Schwarz, Ludger Schöls, Tobias M Rasse
المصدر: PLoS Genetics, Vol 8, Iss 11, p e1003066 (2012)
وصف الملف: electronic resource
-
8
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
-
9
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)
-
10
المؤلفون: Marina T. DiStefano, Mark Bowser, Sarah E. Hemphill, Elizabeth Hynes, Andrew R. Grant, Sami S. Amr, Brandon J. Cushman, Ahmad N. Abou Tayoun, Andrea M. Oza, Michael A. Gonzalez, Rebecca K. Siegert, Heidi L. Rehm
مصطلحات موضوعية: 0303 health sciences, 030305 genetics & heredity, Computational biology, Gene mutation, Biology, Genome, Homology (biology), DNA sequencing, 03 medical and health sciences, Exon, Gene expression, Gene, Loss function, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b859a991b574f5ff0bda4254fec57fb4
https://doi.org/10.1101/276287