Search Results - Brendan Lanpher
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P327: Proof of concept core biopsy technique of vascular malformations for DNA and RNA sequencing with novel identification of PKD1 variant by Whitney Thompson, Eric Klee, Brendan Lanpher, Emily Bendel, Megha Tollefson, Scott Thompson
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis by Matheus Wilke, Yao Xiao, Gavin Schaeferle, Brendan Lanpher, Eric Klee, Che Ngufor, Moein Enayati
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype by Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis by Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier
Published in Molecular Genetics and Metabolism Reports (2017-03-01)Get full text
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P232: Diagnostic yield of genome sequencing after non-diagnostic exome sequencing: A retrospective review of 118 cases at a single institution by Kara Eckberg, Hala Deeb, Tori Winter, Zachary Haugstad, Joseph Farris, Joan Steyermark, Filippo Pinto e Vairo, Brendan Lanpher, Radhika Dhamija
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P198: Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model by Eva Kahn, Whitney Thompson, Paul Bratcher, Brendan Lanpher, Megha Tollefson, Katelyn Anderson, Emily Bendel-Stenzel, Stephanie Polites, Haraldur Bjarnason, Lorin Bibb, Nicholas Bohrer, David Woodrum, Scott Thompson, Ahmad Al-Huniti
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution by Radhika Dhamija, Hala Deeb, Laura Rust, Brendan Lanpher, Whitney Thompson, Ellen Bendel-Stenzel, Paige Ridder, Shelby Wellmann, Joan Steyermark, Lisa Schimmenti, Pavel Pichurin, David Deyle, Khoon Ghee Queening Tan, Ralitza Gavrilova, Dusica Babovic-Vuksanovic, Ethylin Jabs
Published in Genetics in Medicine Open (2025-01-01)Get full text
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