検索結果 - Matheus Wilke

P586: Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis 著者: Matheus Wilke, Mayowa Osundiji, Dusica Babovic-Vuksanovic, Eric Klee

全文の入手

P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis 著者: Matheus Wilke, Yao Xiao, Gavin Schaeferle, Brendan Lanpher, Eric Klee, Che Ngufor, Moein Enayati

全文の入手

P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype 著者: Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher

全文の入手

P528: Utilizing long-read sequencing technologies to enable discovery of disease genes associated with complex neurological phenotypes 著者: Angita Jain, Evan Udine, Joseph Farris, Mariely DeJesus Hernandez, Matheus Wilke, NiCole Finch, Richard Crook, Karthik Muthusamy, Ralitza Gavrilova, Marka van Blitterswijk, Eric Klee

全文の入手

P546: Assessment of inborn errors of metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework 著者: Matheus Wilke, William Hankey, Joshua Lowry, Justyne Ross, Emily Brown Reeves, Raquel Fernandez, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen, Jennifer Goldstein

全文の入手

P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases 著者: Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira

全文の入手

P252: Development of a scoring system to define lysosomal diseases 著者: 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

全文の入手

P324: Research analysis of clinical exome sequence data to detect diabetes-related genetic variation 著者: Matheus Wilke, Matheus Vernet Machado Bressan Wilke, Michelle Thompson, Sungwoo Jho, Katarzyna Thompson, Hamed Rahi, Alexa Dickson, Meagan Corliss, Yang Cao, Jason Walker, Gregory Sprenger, Kilannin Krysiak, Molly Schroeder, Stephen Stone, Fumihiko Urano, Julie Neidich, Kevin Bowling

全文の入手