ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela M., Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F., Eilbeck, Karen, Enns, Gregory M., Feigenbaum, Annette, Lichter‐Konecki, Uta, Lyon, Elaine, Pasquali, Marzia, Watson, Michael, Blau, Nenad, Steiner, Robert D., Craigen, William J., Mao, Rong
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
Flowers, May, Dickson, Alexa, Miller, Marcus J., Spector, Elaine, Enns, Gregory Mark, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith A., Feigenbaum, Annette, Graham, Brett H., Mao, Rong
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
Webber, Elizabeth M., Hunter, Jessica Ezzell, Biesecker, Leslie G., Buchanan, Adam H., Clarke, Elizabeth V., Currey, Erin, Dagan‐Rosenfeld, Orit, Lee, Kristy, Lindor, Noralane M., Martin, Christa Lese, Milosavljevic, Aleksandar, Mittendorf, Kathleen F., Muessig, Kristin R., O'Daniel, Julianne M., Patel, Ronak Y., Ramos, Erin M., Rego, Shannon, Slavotinek, Anne M., Sobriera, Nara Lygia M., Weaver, Meredith A., Williams, Marc S., Evans, James P., Goddard, Katrina A. B.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
McGlaughon, Jennifer L., Pasquali, Marzia, Wallace, Kathleen, Ross, Justyne, Senol-Cosar, Ozlem, Shen, Wei, Weaver, Meredith A., Feigenbaum, Annette, Lyon, Elaine, Enns, Gregory M., Mao, Rong, Baudet, Heather G.
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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Journal Article
Somatic cancer variant curation and harmonization through consensus minimum variant level data
Ritter, Deborah I, Roychowdhury, Sameek, Roy, Angshumoy, Rao, Shruti, Landrum, Melissa J, Sonkin, Dmitriy, Shekar, Mamatha, Davis, Caleb F, Hart, Reece K, Micheel, Christine, Weaver, Meredith, Van Allen, Eliezer M, Parsons, Donald W, McLeod, Howard L, Watson, Michael S, Plon, Sharon E, Kulkarni, Shashikant, Madhavan, Subha
Published in Genome medicine (04.11.2016)
Published in Genome medicine (04.11.2016)
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Journal Article
P687: Variant classification discrepancies in the ACADVL gene
Dickson, Alexa, Flowers, May, Miller, Marcus, Spector, Elaine, Enns, Gregory, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith, Feigenbaum, Annette, Graham, Brett, Mao, Rong
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
Mohan, Shruthi, De Biase, Irene, Yuzyuk, Tatiana, Dickson, Alexa, Pramparo, Tiziano, Francis, Stephanie, Weaver, Meredith, Fernandez, Raquel, Suchy, Sharon, Moser, Ann, Mao, Rong, Braverman, Nancy
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
Kanavy, Dona, Goldstein, Jenny, Pinto e Vairo, Filippo, Bali, Deeksha, Chen-Deutsch, Xiangwen, Donti, Taraka, Goomber, Shelly, McGlaughon, Jennifer, Pan, Yinghong, Seifert, Bryce, Fernandez, Raquel, Kyle, Emily, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P007: PP4 criteria specifications for proximal urea cycle disorders
Simpson, Kara, Mew, Nicholas Ah, Caldovic, Ljubica, Feigenbaum, Annette, Fernandez, Raquel, Groopman, Emily, Gropman, Andrea, Kudalkar, Emily, Lichter-Konecki, Uta, Kyriss, McKenna, Spector, Elaine, Weaver, Meredith, Warrier, Manya, Zastrow, Diane, Thomas-Wilson, Amanda
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Beyond the Pletzl: Jewish urban histories in interwar France
CORBER, ERIN, SCOTT-WEAVER, MEREDITH L., UNDERWOOD, NICK, MALINOVICH, NADIA
Published in Urban history (01.11.2016)
Published in Urban history (01.11.2016)
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P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency
Mohan, Shruthi, Geck, Renee, Fayer, Shawn, Donnelly, Roseann, Relling, Mary, Vulliamy, Tom, Caudle, Kelly, Waddell, Amber, Kendall, Essence, Domingo, Gonzalo, Minucci, Angelo, Ley, Benedikt, Chu, Cindy, Haidar, Cyrine, McLeod, Howard, Prchal, Josef, Sirdah, Mahmoud, Aggarwal, Vimla, Jiang, Weiying, Kyle, Emily, Weaver, Meredith, Whirl-Carrillo, Michelle, Stergachis, Andrew
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
Groopman, Emily, Thomas-Wilson, Amanda, Mohan, Shruthi, Goldstein, Jennifer, Weaver, Meredith, Fernandez, Raquel, Wallis, Heidi, Caldovic, Ljuba, Mew, Nicholas Ah, De Biase, Irene, Moser, Ann, Suchy, Sharon, Yuzyuk, Tatiana, Young, Sarah, Mercimek-Andrews, Saadet, Braverman, Nancy, Mao, Rong
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
The Dynamics of a Genetic Counseling Peer Supervision Group
Lewis, Katie L., Erby, Lori A. H., Bergner, Amanda L., Reed, E. Kate, Johnson, Maria R., Adcock, Jessica Y., Weaver, Meredith A.
Published in Journal of genetic counseling (01.06.2017)
Published in Journal of genetic counseling (01.06.2017)
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Journal Article
Medical foods: Inborn errors of metabolism and the reimbursement dilemma
Weaver, Meredith A., Johnson, Alissa, Singh, Rani H., Wilcox, William R., Lloyd-Puryear, Michele A., Watson, Michael S.
Published in Genetics in medicine (01.06.2010)
Published in Genetics in medicine (01.06.2010)
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DNA Patenting and Licensing
Henry, Michelle R., Cho, Mildred K., Weaver, Meredith A., Merz, Jon F.
Published in Science (American Association for the Advancement of Science) (23.08.2002)
Published in Science (American Association for the Advancement of Science) (23.08.2002)
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