Articleposted 2024-10-10 07:03:26
Chromosomal analysis and short-term outcome of prenatally diagnosed complex congenital heart disease
Marcellino Verbeke, Laurens Hannes, Koen Devriendt, Kris Van den Bogaert, Bjorn Cools, Luc De Catte, Marc Gewillig, and 1 more authors
Under Review
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Articleposted 2024-10-01 01:09:07
Deep Genome Sequencing Uncovers Extensive Genetic Heterogeneity in Early Human Placentas
Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, Pernille Torring, Britta Schlott Kristiansen, Qin Hao, Lene Sperling, and 1 more authors
Under Review
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Articleposted 2024-09-17 11:23:14
Clinical Utility of Rapid Whole Genome Sequencing in Neonatal Patients Receiving Extracorporeal Membrane Oxygenation (ECMO)
Milan Amin, Kristen Wigby, Denise Suttner, Anna-Kaisa Niemi, Lucia Guidugli, Jeanne Carroll
Under Revision
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Articleposted 2024-07-26 17:12:32
View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
Claire Caillot, Etienne Javouhey, Stephane HAYS, Evan GOUY, Pauline Monin, Gaetan Lesca, Damien Sanlaville, and 1 more authors
Under Revision
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Articleposted 2024-06-13 02:03:51
Beyond Arrays: Leveraging Whole Genome Sequencing to provide insights into Type 1 Diabetes risk in the population
Ankit M Arni, Diane P Fraser, Seth A Sharp, Richard A Oram, Matthew B Johnson, Michael N Weedon, Kashyap A Patel
Under Review
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Articleposted 2024-05-28 21:10:43
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres
Amanda Spurdle, Cristina Fortuno, Elisa Cops, Aimee Davidson, Johanna Hadler, Giovanni Innella, Maddison McKenzie, and 20 more authors
Published
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Articleposted 2024-03-06 08:21:06
One-pot Point-of-Care Nucleic-acid Detection via Padlock DNA Ligation and Rolling Circle Transcription
Litao Yang, Yongkun Guo, Zaobing Zhu, Hanwen Zhang, Rong Li, Shengtao Lu, Yinhong Huang
Posted
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Articleposted 2024-02-08 10:17:18
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Holm Graessner, Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel Taylor, Malte Spielmann, and 3 more authors
Published
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Articleposted 2023-11-22 10:09:20
Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders
Chunhua Weng, Fangyi Chen, Priyanka Ahimaz, Kai Wang, Wendy Chung, Casey Ta, Cong Liu
Under Review
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Brief Communicationposted 2023-08-09 14:06:55
Tumor analysis of MMR genes in Lynch-like syndrome: challenges associated to results interpretation
Marta Pineda, Paula Rofes, Nuria Dueñas, Jesús del Valle, Matilde Navarro, Judith Balmaña, Teresa Ramon y Cajal, and 6 more authors
Posted
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