Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Jaclyn B. Murry"'
Autor:
Ying S. Zou, Melanie Klausner, Jen Ghabrial, Victoria Stinnett, Patty Long, Laura Morsberger, Jaclyn B. Murry, Katie Beierl, Christopher D. Gocke, Rena R. Xian, Kevin H. Toomer, Jing Christine Ye, Robert Z. Orlowski, Carol Ann Huff, Syed Abbas Ali, Philip H. Imus, Christian B. Gocke, Guilin Tang
Publikováno v:
Blood Cancer Journal, Vol 14, Iss 1, Pp 1-5 (2024)
Externí odkaz:
https://doaj.org/article/cab7ab5369954ec9946ccb2755f77a59
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Ying S. Zou, Laura Morsberger, Melanie Hardy, Jen Ghabrial, Victoria Stinnett, Jaclyn B. Murry, Patty Long, Andrew Kim, Christine A. Pratilas, Nicolas J. Llosa, Brian H. Ladle, Kathryn M. Lemberg, Adam S. Levin, Carol D. Morris, Lisa Haley, Christopher D. Gocke, John M. Gross
Publikováno v:
Genes; Volume 14; Issue 6; Pages: 1139
Ewing sarcomas (ES) are rare small round cell sarcomas often affecting children and characterized by gene fusions involving one member of the FET family of genes (usually EWSR1) and a member of the ETS family of transcription factors (usually FLI1 or
Autor:
Bibiana K Y Wong, Jaclyn B Murry, Rajesh Ramakrishnan, Fang He, Alfred Balasa, Gary R Stinnett, Steen E Pedersen, Robia G Pautler, Ignatia B Van den Veyver
Publikováno v:
PLoS ONE, Vol 14, Iss 11, p e0224876 (2019)
Gene-environment interactions contribute to the risk for Autism Spectrum Disorder (ASD). Among environmental factors, prenatal exposure to stress may increase the risk for ASD. To examine if there is an interaction between exposure to maternal stress
Externí odkaz:
https://doaj.org/article/c9f844e4a110406e8057fcb7eafb711d
Autor:
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung
Publikováno v:
Journal of medical genetics.
BackgroundMosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited.MethodsWe performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chro
Autor:
Heidi L. Rehm, Bethany Zettler, Amy L. McGuire, Sergei Roumiantsev, Dmitry Dukhovny, Kalotina Machini, Talia S. Schwartz, Ozge Ceyhan-Birsoy, Hadley Stevens Smith, Timothy W. Yu, Jill O. Robinson, Devan Petersen, Pankaj B. Agrawal, Chet Graham, Amy E. Roberts, Tiffany T. Nguyen Dolphyn, Tina K. Truong, Maegan Harden, Carrie L. Blout Zawatsky, Casie A. Genetti, Ingrid A. Holm, Shawn Fayer, Xingquan Lu, Harvey L. Levy, Vivek Ramanathan, Richard B. Parad, Leslie A. Frankel, Jaclyn B. Murry, Amanda M. Gutierrez, Wendi N. Betting, Kaitlyn B. Lee, Grace E. VanNoy, Susan E. Waisbren, Robert C. Green, Stacey Pereira, Alan H. Beggs, Matthew S. Lebo, Kurt D. Christensen, Medha Naik, Hayley A. Peoples, Rubaiya Islam, Uma Ramamurthy, Joel B. Krier
Publikováno v:
JAMA Pediatr
Importance Newborn genomic sequencing (nGS) may provide health benefits throughout the life span, but there are concerns that it could also have an unfavorable (ie, negative) psychosocial effect on families. Objective To assess the psychosocial effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8443c79829316490733916ea5ce473
https://europepmc.org/articles/PMC8383160/
https://europepmc.org/articles/PMC8383160/
Autor:
Nghi Dang, Jonas Denecke, Jaclyn B. Murry, Laurence A. Bindoff, Tatjana Bierhals, Caroline Nava, Jordan H. Whitlock, Anne Slavotinek, Julian A. Martinez-Agosto, Frédéric Bilan, Ana Beleza-Meireles, Caroline Estes, Janneke H M Schuurs-Hoeijmakers, Adam Jackson, Christiane Zweier, David T. Miller, Kirsty McWalter, Gunnar Houge, Boris Keren, Jun Wang, Kinga K. Tomczak, Hans-Jürgen Kreienkamp, Siren Berland, Fabiola Quintero-Rivera, Charlotte A. Haaxma, Gwenaël Le Guyader, Laura Kellogg, Siddharth Banka, John M. Parant, Nan Cher Yeo, Jirat Chenbhanich, Davor Lessel, Cornelia Kraus, Yolanda Holler-Managan, Kelly Q. Minks, Julie Fleischer, Sarah F. Smithson, Geir J. Braathen, Ilaria Mannucci, Stanley F. Nelson, Trine Prescott, Luis F. Escobar, Simone F. Reiter, Kristian Tveten, David Bearden, Utz Fischer, Christian Kubisch, Perry B. Shieh, Jeff Abramson, Jane Juusola, Maja Hempel, Ulf W. Ljungblad, Daniel Groepper, Hannes Huber, Billur Moghaddam, Leslie Manace Brenman, Thorsten Althoff, Matthew Might, Alexander P.A. Stegmann, Cathy Kiraly-Borri, Øyvind L. Busk, Gareth Baynam, Hanitra Randrianaivo, Paul J. Benke, Farrah Rajabi
Publikováno v:
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook
Autor:
Ozge Ceyhan-Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Heidi L. Rehm, Alan H. Beggs, Wendi N. Betting, Kurt D. Christensen, Dmitry Dukhovny, Leslie A. Frankel, Chet Graham, Amanda M. Guiterrez, Maegan Harden, Joel B. Krier, Harvey L. Levy, Xingquan Lu, Medha Naik, Tiffany T. Nguyen, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren
Publikováno v:
The American Journal of Human Genetics. 104:76-93
Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to be addressed for its broader and effective application. The BabySeq Project is
Autor:
Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Wendi N. Betting, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Chet Graham, Amanda M. Guiterrez, Maegan Harden, Joel B. Krier, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren
Publikováno v:
Genet Med
Purpose Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized neonates to receive conventional NBS or NBS plus exome sequencing (ES)
Autor:
Alexander P.A. Stegmann, Jun Wang, Anne Slavotinek, Cornelia Kraus, Paul J. Benke, Christiane Zweier, Fabiola Quintero-Rivera, Øyvind L. Busk, Kirsty McWalter, Hans-Jürgen Kreienkamp, Luis F. Escobar, Geir J. Braathen, Kristian Tveten, Farrah Rajabi, Charlotte A. Haaxma, David Bearden, John M. Parant, Yolanda Holler-Managan, Nghi Dang, Leslie Manace Brenman, Ana Beleza, Thorsten Althoff, Cathy Kiraly-Borri, Maja Hempel, Christian Kubisch, Kelly Q. Minks, Laura Kellogg, Hannes Huber, Ulf W. Ljungblad, Hanitra Randrianaivo, Perry B. Shieh, Jeff Abramson, Jirat Chenbhanich, Jonas Denecke, Billur Moghaddam, Gareth Baynam, Kinga K. Tomczak, Matthew Might, Jane Juusola, Jordan H. Whitlock, Gunnar Houge, Julie Fleischer, Laurence A. Bindoff, Siren Berland, Tatjana Bierhals, Adam Jackson, Gwenaël Le Guyader, Stanley F. Nelson, Caroline Estes, Nan Cher Yeo, Simone F. Reiter, Utz Fischer, Sarah F. Smithson, Daniel Groepper, Siddharth Banka, Davor Lessel, Frédéric Bilan, Ilaria Mannucci, Trine Prescott, David T. Miller, Janneke H M Schuurs-Hoeijmakers, Boris Keren, Jaclyn B. Murry, Caroline Nava, Julian A. Martinez-Agosto
BackgroundWe aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30-associated neurodevelopmental disorder.MethodsClinical and genetic data from affected individuals were collected through family supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f76f0fda77edaab5af461715f228d85b
https://doi.org/10.1101/2020.09.24.20196097
https://doi.org/10.1101/2020.09.24.20196097