Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Rebecca K. Siegert"'
Autor:
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
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Autor:
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
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Contains fulltext : 243959.pdf (Publisher’s version ) (Closed access) PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College o
Autor:
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
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required f
Autor:
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
PurposeThe ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specific ACMG/AMP)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44f8081fed601280b3a27a458812f975
https://doi.org/10.1101/2021.01.27.21250652
https://doi.org/10.1101/2021.01.27.21250652
Autor:
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
Publikováno v:
Paediatrics Publications
Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)
Hum Mutat
Human mutation, Vol. 39, no.11, p. 1476-1484 (2018)
Hum Mutat
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two i
Autor:
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
Publikováno v:
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. 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247
PurposeProper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea097328dc52161534a78b9bfbc89123
Autor:
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
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts, and applied it to 109 hearing loss-associated genes that were divided into 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b859a991b574f5ff0bda4254fec57fb4
https://doi.org/10.1101/276287
https://doi.org/10.1101/276287
Autor:
Elizabeth Hynes, Rebecca K. Siegert, Marina T. DiStefano, Andrea M. Oza, Michael A. Gonzalez, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sarah E. Hemphill, Sami S. Amr, Brandon J. Cushman, Andrew R. Grant, Mark Bowser
Publikováno v:
The Journal of molecular diagnostics : JMD. 20(6)
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts and have applied it to 109 hearing loss–associated genes that were divided i
Autor:
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
Publikováno v:
Genetics in Medicine. 21:2409