Search Results - Sharon Suchy

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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

    Published in Genetics in Medicine Open (2024-01-01)
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  2. 2

    P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel* by Shruthi Mohan, Irene DeBiase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Pepper St. Clair, Rachel Logan, Randy Cockerell, Raquel Fernandez, Ashley Ratzsch, Emily Kyle, Meredith Weaver, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience by 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

    Published in Genetics in Medicine Open (2023-01-01)
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  4. 4

    O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city by Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana

    Published in Genetics in Medicine Open (2024-01-01)
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