Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Honey Nagakura"'
Autor:
Honey Nagakura, Katherine L. Helbig, Samin A. Sajan, Zöe Powis, LaDonna Immken, Wendy Alcaraz, Sha Tang
Publikováno v:
Clinical Case Reports
Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identif
Autor:
Kimberly A. Kripps, Jill A. Rosenfeld, Carlos A. Bacino, Lisa Emrick, John W. Belmont, Mahim Jain, Denise L. Perry, Lindsay C. Burrage, LaDonna Immken, Ryan J. Taft, Brendan Lee, Adeline Vanderver, Krista Bluske, Seema R. Lalani, Austin Larson, Nilesh K. Desai, Honey Nagakura
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1, white matter changes, and a distinct syndrome due to deletions including
Autor:
Honey Nagakura, Victoria Roberts, Kyle Retterer, Elliott H. Sherr, Patrik Vitazka, Aida Telegrafi, LaDonna Immken, Sherri J. Bale, Brooke T. Smith, Marc DiFazio, Wendy K. Chung, Francisca Millan, Bethany Friedman, Megan T. Cho, Kristin G. Monaghan, Renkui Bai, Eden Haverfield, David B. Everman, Brad Angle, Jane Juusola
Publikováno v:
American Journal of Medical Genetics Part A. 170:1791-1798
Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogeni
Autor:
Susan Brammah, Honey Nagakura, Christopher T. Gordon, Laurence Hubert, Andrea M. Lewis, Renee Carroll, Richard H. Scott, Alexandrine Garrigue, Melanie Leffler, Jozef Gecz, Michael Field, Lucinda Murray, Sarah Risen, Seema R. Lalani, Marie Shaw, Geneviève de Saint Basile, Augusto Rendon, Raman Kumar, Tracy Dudding-Byth, LaDonna Immken, Patrick Nitschké, Arnold Munnich, Jeanne Amiel, Mark J. Cowley, Judy Spies, Bronwyn Kerr, Myriam Oufadem, Nina Powell-Hamilton, Claude Besmond, John D. Pollard, Emma Kivuva, Christine Bole-Feysot, William G. Newman, Jill A. Rosenfeld, Elizabeth E. Palmer, Jessica Tusi, Allison Tam, Richard Webster, Francesca Filippini, Marlène Rio, André E. Minoche, Fan Xia
Publikováno v:
Kumar, R, Gordon, C T, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, S R, Lewis, A M, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Spies, J, Minoche, A E, Cowley, M J, Risen, S, Powell-Hamilton, N N, Tusi, J E, Immken, L, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, J A, Amiel, J, Gecz, J & DDD Study 2017, ' A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations ', American Journal of Human Genetics, vol. 101, no. 6, pp. 995-1005 . https://doi.org/10.1016/j.ajhg.2017.10.009
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef7205c54a2bbf1a7d269eb67f24228
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
https://www.research.manchester.ac.uk/portal/en/publications/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations(87987c4f-208a-4091-b33d-86b418060ef2).html
Autor:
Christine M. Eng, Thomas Besnard, Ingo Helbig, Holger Lerche, Bülent Kara, H. Hjalgrim, Peter-Michael Kloetzel, Mahmoud Y. Issa, Frédéric Ebstein, Isabelle Hazart, M. Cecilia Ljungberg, Eric LeGuern, Yaping Yang, Jill A. Rosenfeld, Rikke S. Møller, Alicia Braxton, Lindsay C. Burrage, Sarah Weckhuysen, Felix Rosenow, Peter De Jonghe, Johannes R. Lemke, Hiltrud Muhle, Elizabeth Roeder, Mary E. Dickinson, Nina Barišić, Bassam Abu-Libdeh, Federico Zara, Sara Wells, Carla Marini, Jennifer L. Silhavy, Marcus J. Miller, Maha S. Zaki, Bertrand Isidor, Teresa Santiago-Sim, LaDonna Immken, Andrea Lehmann, Joseph G. Gleeson, Karl Martin Klein, Mari Tokita, A Suls, Honey Nagakura, Rudi Balling, Rosa Guerrero-López, Katalin Sterbova, Benjamin Cogné, John R. Seavitt, Pasquale Striano, Maher Shahrour, Stéphanie Baulac, Renzo Guerrini, Sara Johnson, Lydia Teboul, Stéphane Bézieau, Kiely N. James, Katia Hardies, Orly Elpeleg, Dana Craiu, Jason D. Heaney, Sébastien Küry, Yvonne G. Weber, Zaid Afawi, Weimin Bi, Rebecca O. Littlejohn, Patrick May, Jose Serratosa, Magdalena Walkiewicz, Johanna A. Jähn
Publikováno v:
The American journal of human genetics
EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller, R S 2017, ' Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features ', American Journal of Human Genetics, vol. 100, no. 4, pp. 676-688 . https://doi.org/10.1016/j.ajhg.2017.03.001
EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller, R S 2017, ' Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features ', American Journal of Human Genetics, vol. 100, no. 4, pp. 676-688 . https://doi.org/10.1016/j.ajhg.2017.03.001
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the p
Autor:
Christine M. Eng, Linyan Meng, Yaping Yang, Sarah H. Elsea, Aisha Al Shamsi, Weimin He, Jing Zhang, Taraka R. Donti, Fan Xia, Zhiyv Niu, Jozef Hertecant, James B. Gibson, Honey Nagakura, Fatma Al-Jasmi
Publikováno v:
American journal of medical genetics. Part A. 173(2)
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hyp
Autor:
Honey Nagakura, Gretchen Schneider, James Morris, Christina G.S. Palmer, Katherine A. Lafferty
Publikováno v:
Journal of genetic counseling. 24(1)
Research suggests that when healthcare providers lack cultural competence, minority groups, including the Deaf community, are adversely affected. Although most genetic counseling programs incorporate cultural competency training into their curricula,