Publications by authors named "Stephen Meyn"

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What Is the Nature and Scope of Physicians' Duties of Care to Patients Without a Diagnosis?
April Hall, Bryn D Webb, M Stephen Meyn

AMA J Ethics· October 2025

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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Huayun Hou, Kyoko E Yuki, Gregory Costain, Anna Szuto, Sierra Barnes, M Stephen Meyn

NPJ Genom Med· July 2025

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The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.
Jadin M Heilmann, April L Hall, Janet M Legare, Gregory M Rice, Kristin A Seaborg, Stephen Meyn

WMJ· February 2025

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Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.
Yoshiko Nakano, Meryl Acker, Harriet Druker, Kalene van Engelen, M Stephen Meyn

Eur J Hum Genet· November 2024

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, M Stephen Meyn

Nat Genet· November 2024

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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Mathew Wallis, Simon D Bodek, Jacob Munro, Haloom Rafehi, Mark F Bennett, Stephen Meyn

Orphanet J Rare Dis· August 2024

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An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in requiring reinterpretation.
Max Frenkel, April Hall, M Stephen Meyn, Carol A Diamond

Platelets· December 2023

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Assessing the Performance of the Clinician-reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-rater Reliability.
Robin Z Hayeems, Stephanie Luca, Lauren Chad, Nada Quercia, Bowen Xiao, M Stephen Meyn

Clin Ther· August 2023

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Trio RNA sequencing in a cohort of medically complex children.
Ashish R Deshwar, Kyoko E Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, M Stephen Meyn

Am J Hum Genet· May 2023

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Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Amy Pan, Sierra Scodellaro, Tayyaba Khan, Inna Ushcatz, Wendy Wu, M Stephen Meyn

Pediatr Res· March 2023

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Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
Jiil Chung, Logine Negm, Vanessa Bianchi, Lucie Stengs, Anirban Das, M Stephen Meyn

J Clin Oncol· February 2023

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The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W Lo, Yisu Li, Stephen Meyn

Nat Cancer· February 2023

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Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.
Robin Z Hayeems, Stephanie Luca, Anna C E Hurst, Meagan Cochran, Chelsea Owens, M Stephen Meyn

Eur J Hum Genet· December 2022

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Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma.
Jianming Shao, Lei Gao, Marco L Leung, Bailey Gallinger, Cara Inglese, M Stephen Meyn

Hematol Oncol· August 2022

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Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
Whiwon Lee, Stephanie Luca, Gregory Costain, Meaghan Snell, Maria Marano, M Stephen Meyn

J Genet Couns· April 2022

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Telehealth in Genetics: The Genetic Counselor Perspective on the Utility of Telehealth in Response to the COVID-19 Pandemic in Wisconsin.
Sarah H Choi, Marwat N Salamin, Catherine A Reiser, Lauren E Rachow, Michael R Lasarev, Stephen Meyn

WMJ· April 2022

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The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Robin Z Hayeems, Stephanie Luca, Wendy J Ungar, Viji Venkataramanan, Kate Tsiplova, M Stephen Meyn

Genet Med· February 2022

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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
Catherine Goudie, Leora Witkowski, Noelle Cullinan, Lara Reichman, Ian Schiller, M Stephen Meyn

JAMA Oncol· December 2021

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Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Susan Walker, Sylvia Lamoureux, Tayyaba Khan, Alyssa C M Joynt, Melissa Bradley, M Stephen Meyn

Am J Med Genet A· October 2021

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Stephen Meyn

Am J Hum Genet· June 2021

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The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Ashish Marwaha, David Chitayat, M Stephen Meyn, Roberto Mendoza-Londono, Lauren Chad

Am J Med Genet A· April 2021

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Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.
Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, M Stephen Meyn

Sci Adv· December 2020

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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, M Stephen Meyn

JAMA Netw Open· September 2020

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Genome Diagnostics: Novel Strategies for Measuring Value.
Robin Z Hayeems, Stephanie Luca, Eleanor Pullenayegum, M Stephen Meyn, Wendy J Ungar

J Manag Care Spec Pharm· October 2019

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, Raphael A Bernier, Francois P J Bernier, Stephen Meyn

Front Genet· July 2019

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