نتائج البحث - Christopher Barnett
- يعرض 1 - 19 نتائج من 19
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Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders حسب Ching Moey, Susan J. Hinze, Louise Brueton, Jenny Morton, Dominic McMullan, Benjamin Kamien, Christopher Barnett, Nicola Brunetti‐Pierri, Jillian Nicholl, Jozef Gécz, Cheryl Shoubridge
منشور في 2015Artigo -
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Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level حسب Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher Barnett, Meredith Wilson, Sarah A. Sandaradura, Belinda McClaren, Gemma R. Brett, Jeffrey Braithwaite, Zornitza Stark
منشور في 2021Artigo -
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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families حسب Aideen M. McInerney‐Leo, Jessica Harris, Michael Gattas, Elizabeth Peach, Stephen Sinnott, Tracy Dudding‐Byth, Sulekha Rajagopalan, Christopher Barnett, Lisa K. Anderson, Lawrie Wheeler, Matthew A. Brown, Paul Leo, Carol Wicking, Emma L. Duncan
منشور في 2016Artigo -
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Long-Chain Hydrocarbons from Nonthermal Plasma-Driven Biogas Upcycling حسب Josip Knežević, Tianqi Zhang, Renwu Zhou, Jungmi Hong, Rusen Zhou, Christopher Barnett, Qiang Song, Yuting Gao, Wanping Xu, Dingxin Liu, Nicholas Proschogo, Biswaranjan Mohanty, Jyah Strachan, Behdad Soltani, Fengwang Li, Thomas Maschmeyer, Emma C. Lovell, Patrick J. Cullen
منشور في 2024Artigo -
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Parental experiences of ultrarapid genomic testing for their critically unwell infants and children حسب Gemma R. Brett, Melissa Martyn, Fiona Lynch, M. De Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah L. King‐Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A. Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, Zornitza Stark
منشور في 2020Artigo -
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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome حسب Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara
منشور في 2013Artigo -
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth حسب Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher Barnett, Göknur Haliloğlu, Beril Talim, Zühal Akçören, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary‐Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A. Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly‐Borri, Padma Sivadorai, Richard J. N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft
منشور في 2015Artigo -
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study حسب Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini
منشور في 2015Artigo -
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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders حسب Dominyka Batkovskyte, F. Ellis McKenzie, Fulya Taylan, Pelin Özlem Şimşek‐Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Roger E. Stevenson, Thuong Ha, Denise P. Cavalcanti, Hiroyuki Miyahara, Steven A. Skinner, Miguel Ángel Aguirre, Zühal Akçören, Gülen Eda Ütine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroğlu, Hannah W. Moore, Raymond J. Louie, Peer Arts, Allie Merrihew, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniené
منشور في 2020Artigo -
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains حسب Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler
منشور في 2017Artigo -
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Integrated multi-omics for rapid rare disease diagnosis on a national scale حسب Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark
منشور في 2023Artigo -
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases حسب Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler
منشور في 2017Artigo -
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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare حسب Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara Gaff, Ilias Goranitis, Amanda B. Spurdle, David Hansen, Oliver Hofmann, Nigel G. Laing, Sylvia A. Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John V. Pearson, Nicola Waddell, Christopher Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gécz, Adam Jaffé, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew Mallett, Julie McGaughran, Linda Mileshkin, Kátia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard W. Tothill, Deborah White, Sally L. Dunwoodie, Peter T. Simpson, Peta Phillips, Marie‐Jo Brion, Keri Finlay, Michael C. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Seán Murray, Kathy Wells, John Cannings, Andrew Sinclair, John Christodoulou, Kathryn N. North
منشور في 2023Revisão -
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System حسب Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark
منشور في 2020Artigo -
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... حسب Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen
منشور في 2015Artigo -
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 حسب Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen
منشور في 2017Artigo -
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies حسب Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon
منشور في 2018Artigo -
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants حسب Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett
منشور في 2022Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Genetics
Gene
Mutation
Disease
Internal medicine
Phenotype
Genome
Intensive care medicine
Missense mutation
Pathology
Pediatrics
Psychiatry
Autism
Critically ill
Exome sequencing
Genomics
Law
Neurodevelopmental disorder
Paleontology
Physics
Political science
Autism spectrum disorder
Bioinformatics
Candidate gene
Compound heterozygosity
Computer science
Context (archaeology)
Exome