Hasil Pencarian - Vimla Aggarwal

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  1. 1
    P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing

    P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing oleh Xinming Zhuo, Vimla Aggarwal, Jun Liao

    Diterbitkan 2024-01-01
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  2. 2
    P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay

    P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay oleh Xin Bi, Alejandro Iglesias, Brynn Levy, Vimla Aggarwal

    Diterbitkan 2024-01-01
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  3. 3
    A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

    A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report oleh Natalie C. Lippa, Subit Barua, Vimla Aggarwal, Elaine Pereira, Jennifer M. Bain

    Diterbitkan 2021-09-01
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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
    P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

    P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency* oleh Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis

    Diterbitkan 2024-01-01
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  6. 6
    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors oleh Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams

    Diterbitkan 2024-01-01
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