Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jessica K, Booker"'
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Jennifer L. Carr, James J. Crowley, Annette K. Taylor, Na Eshia Ancalade, Paola Giusti-Rodríguez, Jessica K. Booker, Molly Losh, Greg E. Crawford, Anna K. Kähler, Patrick F. Sullivan, Joseph Piven, Jin P. Szatkiewicz, Craig A. Stockmeier
Fragile X syndrome is a common cause of intellectual disability. It is usually caused by a de novo mutation which often occur on multiple haplotypes and should not be detectible using genome-wide association (GWA). We conducted GWA 89 male FXS cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04f3d2b308375c5d07c05f7e6bfadbcf
https://europepmc.org/articles/PMC6457435/
https://europepmc.org/articles/PMC6457435/
Autor:
Karen E. Weck, Cynthia M. Powell, Julianne M. O’Daniel, Brian C. Jensen, Bradford C. Powell, Cécile Skrzynia, Timothy S. Carey, Myra I. Roche, Kristy Crooks, James P. Evans, Jonathan S. Berg, Kristy Lee, Daniel K. Nelson, Ann Katherine M. Foreman, Jessica K. Booker, Eric T. Juengst, Kirk C. Wilhelmsen, Natasha T. Strande, Lacey Boshe
Publikováno v:
Genetics in Medicine
Purpose: As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce40e8e0f892f6654bbd4361ab3cf430
https://doi.org/10.1038/gim.2015.104
https://doi.org/10.1038/gim.2015.104
Autor:
Amanda L. Treece, Leslie G. Dodd, Nirali M. Patel, Jessica K. Booker, Nathan D. Montgomery, Margaret L. Gulley, Chris J. Civalier, Karen E. Weck
Publikováno v:
Cancer Cytopathology. 124:406-414
Background Diff-Quik-stained fine-needle aspiration (FNA) smears and touch preparations from biopsies represent alternative specimens for molecular testing when cell block or biopsy material is insufficient. This study describes the use of these samp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd29d69dc35498a4830ffe8ac8793095
https://doi.org/10.1002/cncy.21699
https://doi.org/10.1002/cncy.21699
Autor:
Rachel Nusbaum, Megan L. Marshall, Lauren Yackowski, Lisa R. Susswein, Scott M. Weissman, Kristen J. Vogel Postula, Patricia D. Murphy, Gabi Richard, Jeffrey Bissonnette, Erica M. Vaccari, Wendy K. Chung, Daniel E. Pineda-Alvarez, Jessica K. Booker, Sherri J. Bale, M. Laura Cremona, Rachel T. Klein, Guido D. Pollevick, Zhixiong Xu, Kathleen S. Hruska, Federica Gibellini
Publikováno v:
Genetics in Medicine
Purpose: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54513942055a87a6c0069e6fe9baf282
http://europepmc.org/articles/PMC4985612
http://europepmc.org/articles/PMC4985612
Autor:
Jessica K. Booker, Lauren Yackowski, Erica M. Vaccari, Maria L Cremona, Melanie Hussong, Kathleen S. Hruska, Patricia D. Murphy
Publikováno v:
Cancer Research. 75:P4-12
Background: Hereditary breast and ovarian cancer (HBOC) is a common indication for referral to cancer genetic counselors. Next generation sequencing panels allow for the efficient evaluation of many genes associated with increased risk of these cance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ff5258947d57d07304cbf43058620ab
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-01
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-01
Autor:
Windy Berkofsky-Fessler, Constance Murphy, Deborah Pencarinha, Jessica K. Booker, Rebecca Yee Bassett, Haiyan Wan, Mingjuan Liao, Melanie Hussong, Nina Sanapareddy, Elisabeth McKeen, Kathleen S. Hruska, Patricia D. Murphy, Rachel Nusbaum, Erica S. Rinella, Rachel T. Klein, Zhixiong Xu, Joaquin Villar, Lisa R. Susswein, Maria L Cremona
Publikováno v:
Cancer Research. 75:P4-12
Introduction: Expansion of genetic testing technologies has brought multi-gene panels for cancer susceptibility into the clinic; however, the clinical utility of these next-generation sequencing (NGS) panels is largely unknown. Hypothesis: We hypothe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e2b9d08ab3081576ea5b46673fb7fa3
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-05
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-05
Autor:
James J, Crowley, Jin, Szatkiewicz, Anna K, Kähler, Paola, Giusti-Rodriguez, NaEshia, Ancalade, Jessica K, Booker, Jennifer L, Carr, Greg E, Crawford, Molly, Losh, Craig A, Stockmeier, Annette K, Taylor, Joseph, Piven, Patrick F, Sullivan
Publikováno v:
Molecular psychiatry. 24(3)
Fragile X syndrome is rare but a prominent cause of intellectual disability. It is usually caused by a de novo mutation that occurs on multiple haplotypes and thus would not be expected to be detectible using genome-wide association (GWA). We conduct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06edcecb7b1661b318d2267b87145649
https://pubmed.ncbi.nlm.nih.gov/31548576
https://pubmed.ncbi.nlm.nih.gov/31548576
Autor:
Jessica K. Booker, Jennifer L. Carr, Molly Losh, Jin P. Szatkiewicz, Paola Giusti-Rodríguez, Joseph Piven, Na Eshia Ancalade, Greg E. Crawford, Patrick F. Sullivan, Stephanie N Giamberardino, Craig A. Stockmeier, Annette K. Taylor, James J. Crowley, Anna K. Kähler
Publikováno v:
Molecular Psychiatry. 25:3450-3450
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::024732b15656e4460367bbf40a257e00
https://doi.org/10.1038/s41380-019-0526-x
https://doi.org/10.1038/s41380-019-0526-x
Autor:
Brendan J. Keating, Irma Vlasac, Florian Eichler, Archana Tare, Jessica K. Booker, Hakon Hakonarson, Richa Saxena, Jiankang Li, Andrew Bjonnes, James F. Gusella, Jianguo Zhang, Jessica Pan, Yiran Guo, Jacqueline M. Lane, Paul A. Caruso
Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.(E66
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::227f31f2c4bf900da88e2428866c2b10