Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Karynne E, Patterson"'
Autor:
Kenneth E. Thummel, Rachel Dalton, Erica L. Woodahl, Karynne E. Patterson, Andrea Gaedigk, Sean McGee, Seung-been Lee, Marsha M. Wheeler, Deborah A. Nickerson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genotyping CYP2D6 is important for precision drug therapy because the enzyme it encodes metabolizes approximately 25% of drugs, and its activity varies considerably among individuals. Genotype analysis of CYP2D6 is challenging due to its highly polym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb1747caed021e4d297a7f3d2d34800
https://doi.org/10.1038/s41436-018-0054-0
https://doi.org/10.1038/s41436-018-0054-0
Autor:
Tim Cherry, Seth J. Perlman, Rando Allikmets, Christina Lam, Katrina M Dipple, Alexias Safi, Hailey Loucks, Penny M Chow, Ian A. Glass, Xue Zou, Heather C Mefford, Angela Sun, Deborah A. Nickerson, Danny E. Miller, Dawn L. Earl, James T. Bennett, Alexandra P. Lewis, Stephanie Austin, Margaret P Adam, Apoorva K Iyengar, Arvis Sulovari, Edith P Almanza Fuerte, Andrew S. Allen, Audrey Squire, Karynne E. Patterson, Erin Huggins, Winston Lee, William H. Majoros, Emily S Bonkowski, Tianyun Wang, Priya S. Kishnani, Robin L. Bennett, Mary Claire King, Tara L. Wenger, Erika Beckman, Kendra Hoekzema, Gregory E. Crawford, Timothy E. Reddy, Evan E. Eichler, Irene Chang, Anne V. Hing, Zoe Nelson, Thomas J. Walsh, Dan Doherty, Megan C. Sikes, Michael J. Bamshad, Catherine R Paschal, Jessica X. Chong, Jenny Thies, Katherine M. Munson
Publikováno v:
Am J Hum Genet
Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of-the-art treatments. In some cases, testing reveals difficult-to-evaluat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ab12a1515b66691cb897b68d32911c
https://pubmed.ncbi.nlm.nih.gov/34216551
https://pubmed.ncbi.nlm.nih.gov/34216551
Autor:
Ting Wang, Karynne E. Patterson, Penny M Chow, Alexandra P. Lewis, Bonkowski Es, Adam Mp, Katherine M. Munson, Catherine R Paschal, Deborah A. Nickerson, Won Hee Lee, Audrey Squire, Dipple Km, Fuerte Epa, Angela Sun, Dan Doherty, Loucks H, Christina Lam, Ian A. Glass, Danny E. Miller, Dawn L. Earl, Rando Allikmets, Jenny Thies, Chang I, Beckman E, Arvis Sulovari, Evan E. Eichler, Jessica X. Chong, Perlman Sj, Nelson Z, Kendra Hoekzema, Robin L. Bennett, Anne V. Hing, Timothy J. Cherry, Megan C. Sikes, Michael J. Bamshad, Heather C Mefford, James T. Bennett
BACKGROUNDDespite widespread availability of clinical genetic testing, many individuals with suspected genetic conditions do not have a precise diagnosis. This limits their opportunity to take advantage of state-of-the-art treatments. In such instanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a407f89067548603f34498d4966528f1
https://doi.org/10.1101/2020.11.03.365395
https://doi.org/10.1101/2020.11.03.365395
Autor:
Karynne E. Patterson, Joseph Haddad, Frederic Reinier, Elizabeth Blue, Sarah E. Keesecker, Michael J. Bamshad, Yi Cai
Publikováno v:
Birth Defects Research. 109:1257-1267
Background The majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46c563e65fd747de6c2c50019af2e0f9
https://doi.org/10.1002/bdr2.1063
https://doi.org/10.1002/bdr2.1063
Autor:
Deborah A. Nickerson, Joon Ho Yu, Holly K. Tabor, Margarita Saenz, Karynne E. Patterson, Seema M. Jamal, Jessica X. Chong, Peter Lorentzen, Michael J. Bamshad, Eugen Boltshauser, Anita Rauch, Karen M. Park
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose:The pace of Mendelian gene discovery is slowed by the “n-of-1 problem” – the difficulty of establishing causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79525250f788a8bc1568d98d626f627
https://doi.org/10.1038/gim.2015.161
https://doi.org/10.1038/gim.2015.161
Autor:
Francesc López-Giráldez, Eric Boerwinkle, Julie Hoover-Fong, Alan F. Scott, Frederic Reinier, V. Reid Sutton, Kimberly F. Doheny, Holly K. Tabor, Tomasz Gambin, Murat Gunel, Debra J. H. Mathews, Hua Ling, Aravinda Chakravarti, Donna M. Muzny, Richard A. Gibbs, Elizabeth Blue, Karynne E. Patterson, Suzanne M. Leal, Michael J. Bamshad, Richard P. Lifton, Shrikant Mane, Wojciech Wiszniewski, James R. Lupski, Nara Sobreira, C. D. Boehm, Joshua D. Smith, Lee Watkins, P. Dane Witmer, Kaya Bilguvar, Zeynep Coban Akdemir, Jessica X. Chong, Shalini N. Jhangiani, Jay Shendure, Kurt N. Hetrick, Kati J. Buckingham, Ada Hamosh, Martin Kircher, Deborah A. Nickerson, David Valle, Dimitri Avramopoulos, Margaret J. McMillin, Tanya M. Harrell
Publikováno v:
The American Journal of Human Genetics. 97(2):199-215
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77d16e4186c071cfc1165c0660e680d
Autor:
Bradley P. Coe, Yatong K. Li, Karynne E. Patterson, Amber A. Burt, Deborah A. Nickerson, Michael J. Bamshad, James M. Swanson, Joel T. Nigg, Jane E. Ranchalis, Evan E. Eichler, Molly A. Nikolas, Beth Wilmot, Joshua D. Smith, Daniel Seung Kim, Gail P. Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74350aeb24dcd5e95450b4835297a44a
https://europepmc.org/articles/PMC5467442/
https://europepmc.org/articles/PMC5467442/
Autor:
Stephen Sanders, Deborah A. Nickerson, Michael Ronemus, Luis E. Gonzalez, Michael F. Walker, Kali Witherspoon, Shan Dong, Niklas Krumm, Jeffrey D. Mandell, Catherine A.W. Sullivan, Laura Vives, Giuseppe Narzisi, Boris Yamrom, Brian J. O'Roak, A. Jeremy Willsey, Jude Kendall, Jay Shendure, Karynne E. Patterson, Ewa A. Grabowska, Jeanselle Dea, Ivan Iossifov, Michael Wigler, Inessa Hakker, Michael C. Schatz, Dan Levy, Ertugrul Dalkic, Zainulabedin Waqar, Bryan W. Paeper, Beicong Ma, Jennifer Troge, Kenny Ye, Matthew W. State, Anthony Leotta, Peter Andrews, Linda Rodgers, Zihua Wang, Yoon-ha Lee, Holly A.F. Stessman, Seungtai Yoon, Evan E. Eichler, Joshua D. Smith, Steven Marks, Michael T. Murtha, Julie Rosenbaum, Liping Wei, Shrikant Mane, W. Richard McCombie
Publikováno v:
Nature. 515:216-221
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b4fb8edeee729b043d00cb95f963117
https://doi.org/10.1038/nature13908
https://doi.org/10.1038/nature13908
Autor:
Yi, Cai, Karynne E, Patterson, Frederic, Reinier, Sarah E, Keesecker, Elizabeth, Blue, Michael, Bamshad, Joseph, Haddad
Publikováno v:
Birth defects research. 109(16)
The majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide variants and inse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b158ac8e9b16d4dca1d6d461c65cf0a3
https://pubmed.ncbi.nlm.nih.gov/28748635
https://pubmed.ncbi.nlm.nih.gov/28748635