Bibliotecas PUC-SP - Busca Integrada

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

Autor Max Frenkel, April Hall, M. Stephen Meyn, Carol A. Diamond
Vydáno v Platelets (2023-12-01)

P521: Application of long read whole genome sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey

Autor Hieu Nguyen, Leah Frater-Rubsam, April Hall, Vanessa Horner, Stephen Meyn
Vydáno v Genetics in Medicine Open (2023-01-01)

Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome

Autor Reshma Amin, Theo J Moraes, Amy Skitch, Meredith S Irwin, Stephen Meyn, Manisha Witmans
Vydáno v Canadian Respiratory Journal (2013-01-01)

P606: Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program

Autor Stephen Meyn, Bryn Webb, Derek Pavelek, Heather Motiff, Jadin Heilmann, Hieu Nguyen, Xiangqiang Shao, Vanessa Horner, April Hall
Vydáno v Genetics in Medicine Open (2024-01-01)

P557: Participants’ experiences with and perspectives on genomic research in the University of Wisconsin Undiagnosed Disease Program

Autor Emily Hammad Mrig, April Hall, Kelly Johnson, Emily Warne, Bryn Webb, Stephen Meyn, Yara Al-Rayyan, Rachel Grob
Vydáno v Genetics in Medicine Open (2025-01-01)

P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies

Autor Ariel Gershon, Tanvi Anandampillai, Maahil Arshad, Nicole Martin, James Stavropoulos, Abdul Noor, Elena Greenfeld, Karen Chong, David Chitayat, Stephen Meyn, Yiming Wang
Vydáno v Genetics in Medicine Open (2024-01-01)

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

Autor Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M. Alazami, Woodring E. Wright, M. Stephen Meyn, Fowzan S. Alkuraya, Jerry W. Shay
Vydáno v BMC Genomics (2016-10-01)

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Autor Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
Vydáno v npj Genomic Medicine (2017-05-01)

Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation

Autor Shahar Biechonski, Leonid Olender, Adi Zipin-Roitman, Muhammad Yassin, Nasma Aqaqe, Victoria Marcu-Malina, Melanie Rall-Scharpf, Magan Trottier, M. Stephen Meyn, Lisa Wiesmüller, Katia Beider, Yael Raz, Dan Grisaru, Arnon Nagler, Michael Milyavsky
Vydáno v Scientific Reports (2018-04-01)

P194: Advancing diagnostic precision in rare genetic disorders: Insights from the University of Wisconsin Undiagnosed Disease Program

Autor Bryn Webb, Jadin Heilmann, April Hall, Kim Keppler-Noreuil, Derek Pavelec, Xiangqiang Shao, Janet Legare, Robert Steiner, Lisa Arkin, Jane Churpek, Catharine Garland, Hara Levy, Jennifer Kwon, Ryan McAdams, Elizabeth Petty, Carter Ralphe, Kristin Seaborg, Christine Seroogy, Kimberly Stepien, Ingrid Cristian, Patricia Wheeler, Rachel Grob, Qiang Chang, Stephen Meyn
Vydáno v Genetics in Medicine Open (2025-01-01)

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

Autor Huayun Hou, Kyoko E. Yuki, Gregory Costain, Anna Szuto, Sierra Barnes, Arun K. Ramani, Alper Celik, Michael Braga, Meagan Gloven-Brown, Dimitri J. Stavropoulos, Sarah Bowdin, Ronald D. Cohn, Roberto Mendoza-Londono, Stephen W. Scherer, Michael Brudno, Christian R. Marshall, M. Stephen Meyn, Adam Shlien, James J. Dowling, Michael D. Wilson, Lianna Kyriakopoulou
Vydáno v npj Genomic Medicine (2025-07-01)

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

Autor Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Vydáno v Orphanet Journal of Rare Diseases (2024-08-01)

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Autor Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Vydáno v Frontiers in Genetics (2019-07-01)