Suchergebnisse - "Hastie, Alex"

PubPharm (117)

31

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

enthalten in: bioRxiv.org | 2022

von Tai, D. | Razaz, P. | Erdin, S. | +22

32

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer

enthalten in: Journal of medical genetics | 2022

von Scharf, F. | Leal Silva, R. | Morak, M. | +10

33

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

enthalten in: American journal of human genetics | 2022

von Tai, D. | Razaz, P. | Erdin, S. | +22

ErratumIn: Am J Hum Genet. 2024 Mar 7;111(3):619. - PMID 38458168

34

Reduced representation optical methylation mapping (R²OM²)

enthalten in: bioRxiv.org | 2022

von Grunwald, A. | Sharim, H. | Gabrieli, T. | +10

35

Reduced representation optical methylation mapping (R²OM²)

enthalten in: bioRxiv.org | 2022

von Grunwald, A. | Sharim, H. | Gabrieli, T. | +11

36

16p13.11p11.2 triplication syndrome : a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

enthalten in: European journal of human genetics : EJHG | 2022

von Nicolle, R. | Siquier-Pernet, K. | Rio, M. | +8

37

Optical Genome Mapping and Single Nucleotide Polymorphism Microarray : An Integrated Approach for Investigating Products of Conception

enthalten in: Genes | 2022

von Sahajpal, N. | Mondal, A. | Ananth, S. | +14

38

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

enthalten in: iScience | 2022

von Sahajpal, N. | Jill Lai, C. | Hastie, A. | +24

39

Mako : A Graph-based Pattern Growth Approach to Detect Complex Structural Variants

enthalten in: Genomics, proteomics & bioinformatics | 2022

von Lin, J. | Yang, X. | Kosters, W. | +48

40

Clinical Utility of Combined Optical Genome Mapping and 523-gene Next Generation Sequencing Panel For Comprehensive Evaluation of Myeloid Cancers

enthalten in: bioRxiv.org | 2022

von Sahajpal, N. | Mondal, A. | Ananth, S. | +7