Hasil Pencarian - Emily Groopman

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  1. 1
    P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort

    P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort oleh Emily Groopman, Moriel Singer-Berk, Nicola Whiffin, Jamie Ellingford, Samantha Baxter, Heidi Rehm, Anne O’Donnell-Luria

    Diterbitkan 2023-01-01
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  2. 2
    P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics

    P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics oleh Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Emily Groopman, Nicholas Watts, Michael Wilson, Jordan Wood, Heidi Rehm, Anne O'Donnell-Luria

    Diterbitkan 2023-01-01
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  3. 3
    P252: Development of a scoring system to define lysosomal diseases

    P252: Development of a scoring system to define lysosomal diseases oleh Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo

    Diterbitkan 2024-01-01
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  4. 4
    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*

    P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes* oleh Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews

    Diterbitkan 2024-01-01
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  5. 5
    P007: PP4 criteria specifications for proximal urea cycle disorders*

    P007: PP4 criteria specifications for proximal urea cycle disorders* oleh 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

    Diterbitkan 2024-01-01
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  6. 6
    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience oleh Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao

    Diterbitkan 2023-01-01
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  7. 7
    P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*

    P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* oleh Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

    Diterbitkan 2024-01-01
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  8. 8
    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

    Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features oleh Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

    Diterbitkan 2024-04-01
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  9. 9
    Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

    Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project oleh Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

    Diterbitkan 2024-04-01
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