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American Journal of Medical Genetics. Part A|May 22, 2019
Muenke syndrome: Medical and surgical comorbidities and long-term managementChaya N Murali, Donna M McDonald-McGinn, Tara Lynn Wenger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2019
Clinical utility of exome sequencing in infantile heart failureAlyssa Ritter, Emma Bedoukian, Justin H Berger, et al.
Archives of Pathology & Laboratory Medicine|October 18, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence VariantsKaren D Tsuchiya, Birgit Funke, Madhuri Hegde, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2016
Tracheal cartilaginous sleeves in children with syndromic craniosynostosisTara L Wenger, John Dahl, Elizabeth J Bhoj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing lossQiaoning Guan, Jorune Balciuniene, Kajia Cao, et al.
BMC Bioinformatics|October 21, 2011
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracyHongbo M Xie, Juan C Perin, Theodore G Schurr, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome SequencingAngela M Bard, Lindsay V Clark, Erdal Cosgun, et al.
JCO Precision Oncology|August 7, 2025
Implementation of DPYD and UGT1A1 Testing in Patients With GI Cancer: A Prospective, Nonrandomized Clinical TrialSony Tuteja, Mari Angelica S Cayabyab, Glenda Hoffecker, et al.
American Journal of Medical Genetics. Part A|June 19, 2024
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencingAngela M Bard, Lindsay V Clark, Erdal Cosgun, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
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