Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Elizabeth A, Normand"'
Autor:
Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-14 (2018)
Abstract Background Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clin
Externí odkaz:
https://doaj.org/article/5b87d94797ee4e7982b770ab57a6282f
Autor:
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d974822a75fd96597543ff49dc52620f
https://hdl.handle.net/10807/232271
https://hdl.handle.net/10807/232271
Autor:
Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159
https://hal.science/hal-03998194/document
https://hal.science/hal-03998194/document
Autor:
Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini
Publikováno v:
Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4874221589b63cb383656f262aebe07d
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de08ea94e26cd350b69b4c4356e5bd3
https://pubmed.ncbi.nlm.nih.gov/34321324
https://pubmed.ncbi.nlm.nih.gov/34321324
Autor:
Louise Bier, Grace Yoon, Paul R. Mark, Brendan C. Lanpher, Grazia M.S. Mancini, Jessica Becker, Juliane Winkelmann, Sheryl S. Moy, Rebecca C. Spillmann, Alison S May, Eric W. Klee, Michael T. Zimmermann, Amy Kritzer, Tatjana Bierhals, Renske Oegema, Michael Zech, Pilar Cacheiro, Queenie K.-G. Tan, Deepa Ajit, Richard H. van Jaarsveld, Swarnendu Tripathi, Hartmut Engels, Parul Jayakar, Kathryn M. Harper, Evan E. Eichler, Evangeline Kurtz-Nelson, Tianyun Wang, Blake A Creighton, Jennifer L. Kemppainen, Jennifer MacKenzie, Cecilia Fairley, Keith A. Breau, Robert Stratton, Deike Weiss, Stefan Aretz, Benjamin Cogné, Richard E. Person, Vimla Aggarwal, Brenda Temple, Marie T. McDonald, Yue Si, Robert Jech, Elizabeth A. Normand, Sarah E McKeown, Koen L.I. van Gassen, Lauren Gunderson, Ingrid M.B.H. van de Laar, Ingo Helbig, Joseph T. Shieh, Margot A. Cousin, Marjon van Slegtenhorst, Damian Smedley, Sruthi Dontu, Kirsten Cremer, Laura Schultz-Rogers, Damaris N Lorenzo, Michael C. Stankewich, Katja Kloth, Erin Torti, Allyn McConkie-Rosell, Eva H. Brilstra, Amy Blevins, Pavel N. Pichurin, Bertrand Isidor, Raphael Bernier, Helen V. Firth, Gretchen Parsons
SPTBN1 encodes βII-spectrin, the ubiquitously expressed member of the β-spectrin family that forms micrometer-scale networks associated with plasma membranes. βII-spectrin is abundantly expressed in the brain, where it is essential for neuronal de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e60206bd3c998406bd51183fbe28a710
https://doi.org/10.1101/2020.08.31.20184481
https://doi.org/10.1101/2020.08.31.20184481
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586883b712c52e3cdc325fee41782666
https://doi.org/10.1056/nejmc1812033
https://doi.org/10.1056/nejmc1812033
SUMMARYGene expression is a dynamic process, which is highly coordinated during development to ensure the proper allocation and identity of neuronal cell types within the brain. Equally important during neurodevelopment is how cohorts of neurons esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2dbaee48e91bf98d02c93d8deb5294e
Autor:
Svetlana Arbuzova, Komal Bajaj, Christian Becker, Tanmoy Bhattacharyya, Xiaotao Bian, Mats Brännström, Richard O. Burney, Dan D. Cao, Wai Y. Chan, Chien-Wen Chen, Ya-Ching Chou, Marco Conti, Zebulun S. Cope, Howard Cuckle, Mo-Yu Dai, Rabindranath De La Fuente, Guo-Lian Ding, Savina Dipresa, Jin Du, Cristina Eguizabal, Ecem Esencan, Alberto Ferlin, Jose Carlos Pinto B. Ferreira, Heather Fice, Carlo Foresta, Qing-Qin Gao, Jessica Giordano, Linda C. Giudice, Francesca Romana Grati, Susan J. Gross, Mary Ann Handel, Tristan Hardy, Cheng Huang, He-Feng Huang, Juan Carlos Izpisua Belmonte, Sylvie Jaillard, Hai-Ping Jiang, Zi-Ru Jiang, Laura Kasak, Travis Kent, Ahmed Khattab, Chaini Konwar, Maris Laan, Guan-Lin Lai, Jonathan LaMarre, Dolores J. Lamb, Yi-Xuan Lee, Brynn Levy, Yu-Fei Li, Ming Liu, Xin-Mei Liu, Y.M. Dennis Lo, Gang Lu, Xuan G. Luong, Stephen J. Lye, Xinyi Ma, Yun-Yi Ma, Federico Maggi, Jose Miravet-Valenciano, Stacey Missmer, Kai K. Miu, Grant Montgomery, Nuria Montserrat, Lubna Nadeem, Kavita Narang, Maria New, Anaïs Noblanc, Robert J. Norman, Elizabeth A. Normand, Marisol O’Neill, Maria S. Peñaherrera, Jie Qiao, Endah Rahmawati, Nilufer Rahmioglu, Svetlana Rechitsky, Bernard Robaire, Wendy P. Robinson, Peter A.W. Rogers, María Ruiz-Alonso, Kristiina Rull, Emre Seli, Johanna Selvaratnam, Oksana Shynlova, Carlos Simón, Giuseppe Simoni, Joe Leigh Simpson, Andrew H. Sinclair, Leanne Stalker, Melissa Stosic, Jose M. Teixeira, Nannan Thirumavalavan, Jason C.H. Tsang, Allison Tscherner, Elena J. Tucker, Chii-Ruey Tzeng, Ignatia B. Van den Veyver, Maria M. Viveiros, Hao Wang, Yan-Ling Wang, Ronald Wapner, Jeffrey T. White, Samantha L. Wilson, Liying Yan, Victor Yuan, Fan Zhai, Boryana Zhelyazkova, Qi Zhou, Krina Zondervan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c475416a5b22b572bf8ae2215f59935
https://doi.org/10.1016/b978-0-12-813570-9.09991-5
https://doi.org/10.1016/b978-0-12-813570-9.09991-5
Next-generation sequencing has become deeply integrated into genetic research and clinical practice for the diagnosis of genetic disorders. Its ability to rapidly sequence large amounts of deoxyribonucleic acid (DNA) at high resolution enables the si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19de13db33ae1dbf2027175fdee9b9eb
https://doi.org/10.1016/b978-0-12-813570-9.00025-5
https://doi.org/10.1016/b978-0-12-813570-9.00025-5