Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines by Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx

“…In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. …”
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Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Sheri A. Poskanzer, Loren D.M. Peña, Zhiyv Niu

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Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Anna I. Scott, Kanwaldeep K. Mallhi, Jaya Ganesh, Wei-Liang Chen

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Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines by Angela Brown, Mansour Zamanpoor, Donald R. Love, Debra O. Prosser

“…The guidelines published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/ AMP) provides a comprehensive framework for the interpretation of variants in genes that are associated with Mendelian disorders. …”
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Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Monica Penon-Portmann, Sheri A. Poskanzer, Jaya Ganesh, Irene Chang

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Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Arthur Lenahan, Sho Yano, Brett Graham, Kuntal Sen

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Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections by Joanna Kinga Ponińska, Zofia Teresa Bilińska, Grażyna Truszkowska, Ewa Michalak, Anna Podgórska, Małgorzata Stępień-Wojno, Przemysław Chmielewski, Anna Lutyńska, Rafał Płoski

Subjects: “…Recommendations of American College of Medical Genetics and Genomics/Association for Molecular for Molecular Pathology…”
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Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) by Julie M. Lander, Monica Penon-Portmann, V. Reid Sutton, Irene Chang

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes by Abhinav Jain, Rahul C. Bhoyar, Kavita Pandhare, Anushree Mishra, Disha Sharma, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Mercy Rophina, Bani Jolly, Arushi Batra, Sumit Sharma, Sanjay Siwach, Arun G. Jadhao, Nikhil V. Palande, Ganga Nath Jha, Nishat Ashrafi, Prashant Kumar Mishra, Vidhya A.K., Suman Jain, Debasis Dash, Nachimuthu Senthil Kumar, Andrew Vanlallawma, Ranjan Jyoti Sarma, Lalchhandama Chhakchhuak, Shantaraman Kalyanaraman, Radha Mahadevan, Sunitha Kandasamy, Pabitha B. M, Raskin Erusan Rajagopal, Ezhil Ramya J., Nirmala Devi P., Anjali Bajaj, Vishu Gupta, Samatha Mathew, Sangam Goswami, Mohit Mangla, Savinitha Prakash, Kandarp Joshi, Meyakumla, Sreedevi S., Devarshi Gajjar, Ronibala Soraisham, Rohit Yadav, Yumnam Silla Devi, Aayush Gupta, Mitali Mukerji, Sivaprakash Ramalingam, Binukumar B. K., Vinod Scaria, Sridhar Sivasubbu

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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines by Lora J. H. Bean, Madhuri R. Hegde

Subjects: “…American College of Medical Genetics (ACMG)…”
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O55: Proposed genetics legislation and regulation in the United States by Megan Lyon, Molly Caisse

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P690: Connecting people to genetic services: Work of the regional genetics networks by Megan Lyon, Deborah Maiese, Liza Creel

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P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease by Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder

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P691: Comparing genetics policies in state Medicaid programs in 2022 vs 2021 by Megan Lyon, Myy Nguyen, Molly Caisse, Susanna Ginsburg, Allyson Baughman

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On the launch of Genetics in Medicine Open: Disseminating knowledge and wisdom in genomic medicine by Robert G. Best, Marc S. Williams

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P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 by Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

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P007: PP4 criteria specifications for proximal urea cycle disorders* by Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson

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P687: Variant classification discrepancies in the ACADVL gene by Alexa Dickson, May Flowers, Marcus Miller, Elaine Spector, Gregory Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett Graham, Rong Mao

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Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions by Kevin Wilhelm, Kevin Wilhelm, Mathew J. Edick, Susan A. Berry, Michael Hartnett, Amy Brower

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Population-based screening of newborns: Findings from the newborn screening expansion study (part two) by Kee Chan, Amy Brower, Marc S. Williams

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