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Research Interests

Papers共 86 篇Author StatisticsCo-AuthorSimilar Experts

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P325: the ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel
Robin Larson, Raquel Fernandez, Carlos Ferreira,Hudson Freeze, Matthew Wilson,Dulce Quelhas,Jennifer Goldstein,Christina Lam, Bobby Ng, Heather Baudet, Daniel Beltran, Hongjie Chen, Andrew Edmondson, Miao He, Essence Kendall, Lois Lander,Jennifer McGlaughon, Eva Morava-Kosicz, Monica Penon Portmann,Jenny Thies,Meredith Weaver
Genetics in Medicine Open (2025): 102290
Cited0Views0Bibtex
0
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O43: Crowd-sourced Annotation: A Curation Tool Engaging Future Medical Genomics Professionals
Pepper St. Clair,Justyne Ross,Jennifer Goldstein, Shruthi Mohan, Lindsay Worley, Randy Cockerell, Amber Waddell, William Hankey, Jonathan Berg,Courtney Thaxton
Genetics in Medicine Open (2025): 102353
Cited0Views0Bibtex
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Evaluation of Enzyme Activity Predictions for Variants of Unknown Significance in Arylsulfatase A
Shantanu Jain,Marena Trinidad,Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto,Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, Kobra Rahimi, Sümeyra Zeynep Çalıcı, Luis R. Cedillo,Silvia Berardelli, Buse Özden, Ken Chen,Panagiotis Katsonis,Amanda Williams,Olivier Lichtarge,Sadhna Rana, Swatantra Pradhan,Rajgopal Srinivasan, Rakshanda Sajeed, Dinesh Joshi,Eshel Faraggi,Robert Jernigan,Andrzej Kloczkowski, Jierui Xu, Zigang Song,Selen Özkan,Natàlia Padilla,Xavier de la Cruz, Rocio Acuna-Hidalgo, Andrea Grafmüller, Laura T. Jiménez Barrón,Matteo Manfredi,Castrense Savojardo,Giulia Babbi,Pier Luigi Martelli,Rita Casadio,Yuanfei Sun,Shaowen Zhu,Yang Shen,Fabrizio Pucci,Marianne Rooman,Gabriel Cia,Daniele Raimondi, Pauline Hermans, Sofia Kwee, Ella Chen, Courtney Astore,Akash Kamandula,Vikas Pejaver,Rashika Ramola, Michelle Velyunskiy,Daniel Zeiberg, Reet Mishra,Teague Sterling,Jennifer L. Goldstein,Jose Lugo-Martinez, Sufyan Kazi, Sindy Li, Kinsey Long,Steven E. Brenner,Constantina Bakolitsa,Predrag Radivojac,Dean Suhr,Teryn Suhr,Wyatt T. Clark
Human Genetics（2025）
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