Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ian G. Phelps"'
Autor:
William B. Dobyns, Georg Seelig, Lynne M. Overman, Forrest O. Gulden, Ian A. Glass, Andrew E. Timms, Ian G. Phelps, Matthew Hirano, Paula Alexandre, Alexander B. Rosenberg, Kathleen J. Millen, Gabriel Santpere, Dan Doherty, Steven Lisgo, Charles M. Roco, Mei Deng, Parthiv Haldipur, Zachary Thomson, Kimberly A. Aldinger, Belen Lorente-Galdos, Diana R. O’Day, Nenad Sestan
Publikováno v:
Nature neuroscience
The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint required to integrate environmental cues with developing motor, cognitive and emotional skills into adulthood. Although mature cerebellar neuroanatomy is well st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9b4c1e21fc4b8939d1a650c5318cdf
https://doi.org/10.1038/s41593-021-00872-y
https://doi.org/10.1038/s41593-021-00872-y
Autor:
Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen
Publikováno v:
Human Mutation
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7
https://doi.org/10.1002/humu.24127
https://doi.org/10.1002/humu.24127
Autor:
Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
Publikováno v:
PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and chan
Externí odkaz:
https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af
Autor:
Ian G. Phelps, Ruxandra Bachmann-Gagescu, Hannah M. Tully, Ian A. Glass, Jennifer C. Dempsey, Dan Doherty
Publikováno v:
American Journal of Medical Genetics Part A. 173:1237-1242
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b9b808688ce1649f08dd9775a6db597
https://doi.org/10.1002/ajmg.a.38158
https://doi.org/10.1002/ajmg.a.38158
Autor:
Hamit Özyürek, N. de Lacy, Brian J. O'Roak, Tessa Rue, Jay Shendure, Evan A. Boyle, Phillip F. Chance, Angels García-Cazorla, Jennifer C. Dempsey, Dana M. Knutzen, Charles Marques Lourenço, I A Glass, Beyhan Tüysüz, Diana R. O’Day, Jonathan Adkins, Dan Doherty, Ruxandra Bachmann-Gagescu, Gisele E. Ishak, Radha Ramadevi A, Melissa A. Parisi, L Lingappa, Loreto Martorell, Abdulrahman Alswaid, G Haliloğlu, Ian G. Phelps, Christine R. Isabella, Meral Topçu, Nicholas T. Gorden
Publikováno v:
Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Bachmann-Gagescu, Ruxandra/0000-0002-3571-5271; O'Roak, Brian/0000-0002-4141-0095; Isabella, Christine/0000-0003-0786-7240; Blue, Elizabeth/0000-0002-0633-0305; , Beyhan/0000-0002-9620-5021 WOS: 000358443800002 PubMed: 26092869 Background Joubert syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10525a2bb15fc91d75c98785572f9870
Autor:
Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
Publikováno v:
Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f0b712fcab169cef607b95c1a1e715
https://doi.org/10.1038/ncb3201
https://doi.org/10.1038/ncb3201
Autor:
Deborah A. Nickerson, Yong-Han H. Cheng, Talal AlAnzi, Matthias Gesemann, Tamara D.S. Rusterholz, Ranad Shaheen, Ruxandra Bachmann-Gagescu, Michael J. Bamshad, Ian G. Phelps, Megan E. Grout, Arif O. Khan, Kimberly A. Aldinger, Julie C. Van De Weghe, Stephan C.F. Neuhauss, Rifaat Rawashdeh, Jennifer C. Dempsey, Ronald Roepman, Fowzan S. Alkuraya, Sateesh Maddirevula, Dan Doherty, Himanshu Goel, Brooke L. Latour, Ohad S. Birk, William B. Dobyns
Publikováno v:
American Journal of Human Genetics, 101, 23-36
American Journal of Human Genetics, 101, 1, pp. 23-36
American Journal of Human Genetics, 101, 1, pp. 23-36
Item does not contain fulltext Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfdd2e5b36aa94a664788c47b6de1f3
https://pubmed.ncbi.nlm.nih.gov/28625504
https://pubmed.ncbi.nlm.nih.gov/28625504
Autor:
Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ian G. Phelps, Ruxandra Bachmann-Gagescu, Megan E. Grout, Jennifer C. Dempsey
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/olig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebba5b998038f9633b6cee9237014bc8
https://pubmed.ncbi.nlm.nih.gov/28771248
https://pubmed.ncbi.nlm.nih.gov/28771248
Autor:
Jennifer C. Dempsey, Jacek Majewski, Ryan E. Lamont, Karen W. Gripp, Kym M. Boycott, Ian G. Phelps, Kimberly A. Aldinger, Stephen J. Mosca, Dan Doherty, A. Micheil Innes, Laura D. Baker, Jillian S. Parboosingh, Donald Basel, Taila Hartley, Francois P. Bernier, Diana R. O’Day, Martine Tétreault, Mark J. Stephan, Gisele E. Ishak
Publikováno v:
The American Journal of Human Genetics. 95(2):227-234
Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d92dd44051833586c0aeca2b5db94647
Autor:
Deborah A. Nickerson, Ian G. Phelps, Brian J. O'Roak, Gemma L. Carvill, Jarrett D. Egertson, Bradley P. Coe, Jeff Munson, Roie Levy, Katy Ankenman, Laura Vives, Ian B. Stanaway, Dan Doherty, Niklas Krumm, Heather C Mefford, Wenqing Fu, Diana R. O’Day, Jay Shendure, Joseph B. Hiatt, Akash Kumar, Joshua M. Akey, Evan E. Eichler, Beth Martin, Emily H. Turner, Raphael Bernier, Choli Lee, Elhanan Borenstein
Publikováno v:
Science. 338:1619-1622
Autism Genes, Again and Again Despite recent advances in sequencing technologies and their lowered costs—effective, highly sensitive, and specific sequencing of multiple genes of interest from large cohorts remains expensive. O'Roak et al. (p. 1619
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c722ab00ce5d70f932b661c32ec3ed22
https://doi.org/10.1126/science.1227764
https://doi.org/10.1126/science.1227764