Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Lisa A. Lansdon"'
Autor:
Linda D Cooley, Lisa A Lansdon, Kris Laurence, John C Herriges, Lei Zhang, Elena A Repnikova, Julie Joyce, Preeti Thakor, Lisa Warren, Scott C Smith, Byunggil Yoo, Melissa Gener, Kevin F Ginn, Midhat S Farooqi
Publikováno v:
Cancer Genetics. :10-20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5db17dea36ec588c882dea7fda50a175
https://doi.org/10.1016/j.cancergen.2023.02.004
https://doi.org/10.1016/j.cancergen.2023.02.004
Autor:
Lisa A. Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Alyssa Hahn, Greg Bonde, Abby Long, Jennifer Standley, Anastasia Tyryshkina, George Wehby, Nanette R. Lee, Sandra Daack-Hirsch, Karen Mohlke, Santhosh Girirajan, Benjamin W. Darbro, Robert A. Cornell, Douglas W. Houston, Jeffrey C. Murray, J. Robert Manak
Publikováno v:
Am J Hum Genet
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bba6616746d610ade3107edac5c664d
https://europepmc.org/articles/PMC9892779/
https://europepmc.org/articles/PMC9892779/
Autor:
Lisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, Jeffrey Johnston, Byunggil Yoo, Joseph T Alaimo, Isabelle Thiffault, Neil Miller, Ana S A Cohen, Elena A Repnikova, Lei Zhang, Midhat S Farooqi, Emily G Farrow, Carol J Saunders
Publikováno v:
Clinical chemistry. 68(9)
Background Laboratories utilizing next-generation sequencing align sequence data to a standardized human reference genome (HRG). Several updated versions, or builds, have been released since the original HRG in 2001, including the Genome Reference Co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5352170769bcd715bbce592429900fd9
https://pubmed.ncbi.nlm.nih.gov/35869940
https://pubmed.ncbi.nlm.nih.gov/35869940
Autor:
Carol J Saunders, Lisa A. Lansdon
Publikováno v:
American Journal of Medical Genetics Part A. 185:1341-1343
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3fd63469b6e33083708b66b30f2180
https://doi.org/10.1002/ajmg.a.62080
https://doi.org/10.1002/ajmg.a.62080
Autor:
Lisa A. Lansdon, Brent H. Wyatt, Thomas O. Raymond, Jeffrey C. Murray, John Robert Manak, Amanda J.G. Dickinson, Benjamin W. Darbro
Publikováno v:
genesis. 59
The chromodomain family member chromodomain 1 (CHD1) has been shown to have numerous critical molecular functions including transcriptional regulation, splicing, and DNA repair. Complete loss of function of this gene is not compatible with life. On t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ea15faa77e81fea11bdc794e11f813
https://doi.org/10.1002/dvg.23394
https://doi.org/10.1002/dvg.23394
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Autor:
Ana S.A. Cohen, John Herriges, Neil A. Miller, Lei Zhang, Binu Porath, Joseph T. Alaimo, Midhat S. Farooqi, Carol J Saunders, Linda D. Cooley, Isabelle Thiffault, Maxime Cadieux-Dion, Lisa A. Lansdon, Emily G. Farrow, Elena Repnikova, Byunggil Yoo, Lee Zellmer
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(5)
The most recent build of the human reference genome, GRCh38, was released in 2013. However, many laboratories performing next-generation sequencing (NGS) continue to align to GRCh37. Our aim was to assess the number of clinical diagnostic laboratorie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c69e4531be3f386691a2606d68bf9c
https://pubmed.ncbi.nlm.nih.gov/33631350
https://pubmed.ncbi.nlm.nih.gov/33631350
Autor:
Alissa M. Hulstrand, Jeffrey C. Murray, J. Robert Manak, Robert A. Cornell, Lisa A. Lansdon, Douglas W. Houston, Abby Long, Rachel B. Brouillette, M. Adela Mansilla, Aline Petrin, Benjamin W. Darbro, Jennifer Standley
Publikováno v:
Genetics. 208:283-296
Orofacial clefts are one of the most common birth defects, affecting 1–2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8713d29ba88b897f6f94c1fd7e6969f0
https://doi.org/10.1534/genetics.117.300535
https://doi.org/10.1534/genetics.117.300535
Autor:
Dong Chen, Lisa A. Lansdon, Lei Zhang, Carol J Saunders, Gabor Oroszi, Eric T. Rush, Kendra Engleman
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Hermansky–Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c596a959bc8754d2517699c8a8df6f
https://doi.org/10.1101/mcs.a006110
https://doi.org/10.1101/mcs.a006110
Autor:
H. V. Bernabe, Lisa A. Lansdon, Jeffrey C. Murray, Nichole Nidey, Michael J. Schnieders, Jennifer Standley
Publikováno v:
Journal of Dental Research. 96:1339-1345
Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 ( FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The proband presente
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8157649bdced63bf521b962a0d5f9c92
https://doi.org/10.1177/0022034517726496
https://doi.org/10.1177/0022034517726496
Publikováno v:
Molecular Genetics and Metabolism. 132:S282
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cb688eb95bb889c7cdf16c41702e723
https://doi.org/10.1016/s1096-7192(21)00519-9
https://doi.org/10.1016/s1096-7192(21)00519-9