Kết quả tìm kiếm - Erin Thorpe
- Đang hiển thị 1 - 3 kết quả của 3
-
1
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Bằng Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske, Nicole Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan R. Lajoie, Amirah Khouzam, Shimul Chowdhury, John W. Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael A. Eberle, R. Tanner Hagelstrom, David Bentley, Denise Perry, Ryan J. Taft
Được phát hành 2018Artigo -
2
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico Bằng Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye, Miguel Del Campo, Carolina I. Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew M. Gross, Maren Bennett, Krista Bluske, Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Amanda Clause, Alison J. Coffey, María Laura Cremona, Vlad Gainullin, R. Tanner Hagelstrom, Alka Malhotra, M. Naresh Kumar. K. Rajan, Revathi Rajkumar, Sarah Schmidt, Subramanian S. Ajay, Vani Rajan, Denise Perry, John W. Belmont, David Bentley, Marilyn C. Jones, Ryan J. Taft
Được phát hành 2019Artigo -
3
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Bằng Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm
Được phát hành 2023Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
Bioinformatics
Computational biology
Exome sequencing
Genetic testing
Genome
Mutation
Breakpoint
Chromosome
Copy number analysis
Copy-number variation
Exome
Genetic counseling
Genotype
Internal medicine
Karyotype
Medical diagnosis
Pathology
Pediatrics
Phenotype
Proband
SNP array
Single-nucleotide polymorphism
Uniparental disomy
Whole genome sequencing