खोज परिणाम - Elizabeth Bhoj

परिणाम को परिष्कृत करें
  1. 1
    Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

    Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq द्वारा Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, Elizabeth Bhoj

    प्रकाशित 2020
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    Artigo
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  2. 2
    MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus

    MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus द्वारा Vijay Bhoj, Qinmiao Sun, Elizabeth Bhoj, Cynthia Somers, Xiang Chen, Juan Pablo Torres, Asunción Mejías, Ana M. Gómez, Hasan S. Jafri, Octavio Ramilo, Zhijian J. Chen

    प्रकाशित 2008
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    Artigo
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  3. 3
    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies द्वारा Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, Elizabeth Bhoj

    प्रकाशित 2018
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    Artigo
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  4. 4
    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure द्वारा Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo, Nina Powell‐Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire Turner, I. Karen Temple, Deborah Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz, Laura K. Conlin

    प्रकाशित 2015
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    Artigo
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  5. 5
    De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

    De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females द्वारा Dong Li, Alanna Strong, Kaitlyn M Shen, David Cassiman, Maria Van Dyck, Natália D. Linhares, Eugênia Ribeiro Valadares, Tian-Cheng Wang, Sérgio D.J. Pena, Jaak Jaeken, Samantha A. Schrier Vergano, Elaine H. Zackai, Anne Hing, Penny Chow, Arupa Ganguly, Tasja Scholz, Tatjana Bierhals, Philipp Deindl, Hákon Hákonarson, Elizabeth Bhoj

    प्रकाशित 2020
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    Artigo
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  6. 6
    Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

    Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly द्वारा Dong Li, Tara Wenger, Christoph Seiler, Michael March, Álvaro Gutiérrez-Uzquiza, Charlly Kao, Elizabeth Bhoj, Lifeng Tian, Misha Rosenbach, Yichuan Liu, Nora Robinson, Mechenzie Behr, Rosetta Chiavacci, Cuiping Hou, Tiancheng Wang, Marina Bakay, Renata Pellegrino da Silva, Jonathan A. Perkins, Patrick Sleiman, Michael A. Levine, Patricia J. Hicks, Maxim Itkin, Yoav Dori, Hákon Hákonarson

    प्रकाशित 2018
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    Artigo
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  7. 7
    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia द्वारा Elizabeth Bhoj, Dong Li, Margaret Harr, Simon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, María J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter B. Crino, Hákon Hákonarson

    प्रकाशित 2016
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    Artigo
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  8. 8
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome द्वारा Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    प्रकाशित 2019
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    Artigo
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  9. 9
    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome द्वारा Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover‐Fong, Leah R. Fleming, Ravi Savarirayan, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Jacek Majewski, Loydie A. Jerome‐Majewska, Jillian S. Parboosingh, François Bernier

    प्रकाशित 2014
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    Artigo
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  10. 10
    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses द्वारा Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani

    प्रकाशित 2018
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    Artigo
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  11. 11
    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions द्वारा Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández, Valerie K. Jordan, Megan T. Cho, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Jill A. Rosenfeld, Elizabeth Bhoj, Elaine H. Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G.M. Bosch, Bert B.A. de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R. Lalani, Mieke M. van Haelst, Koen L.I. van Gassen, Ellen van Binsbergen, A. James Barkovich, Daryl A. Scott, Elliott H. Sherr

    प्रकाशित 2016
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    Artigo
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  12. 12
    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions द्वारा Tiong Yang Tan, Claudia Gonzaga‐Jauregui, Elizabeth Bhoj, Kevin A. Strauss, Karlla W. Brigatti, Erik G. Puffenberger, Dong Li, Liqin Xie, Nanditha Das, Ioanna Skubas, Ron A. Deckelbaum, Virginia C. Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G. Dominguez, Aris N. Economides, John D. Overton, Valerie Mayne, Peter Simm, Bryn Jones, Stefanie Eggers, Gwenaël Le Guyader, Fanny Pelluard, Tobias B. Haack, Marc Sturm, Angelika Rieß, Stephan Waldmueller, Michael Hofbeck, Katharina Steindl, Pascal Joset, Anita Rauch, Hákon Hákonarson, Naomi L. Baker, Peter G. Farlie

    प्रकाशित 2017
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    Artigo
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  13. 13
    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

    De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females द्वारा D.L. Polla, Elizabeth Bhoj, Joanne Verheij, Jolien S. Klein Wassink‐Ruiter, André Reis, Charu Deshpande, Anne Gregor, K. Hill-Karfe, Anneke T. Vulto‐van Silfhout, Rolph Pfundt, Ernie M.H.F. Bongers, Hákon Hákonarson, Siren Berland, Gyri Aasland Gradek, Siddharth Banka, Kate Chandler, Lianne Gompertz, Sophie C. Huffels, Constance T. R. M. Stumpel, R. Wennekes, Alexander P.A. Stegmann, William Reardon, Erika Leenders, Bert B.A. de Vries, D. Li, Elaine H. Zackai, Nicola Ragge, Sally Ann Lynch, Sanmati Cuddapah, Hans van Bokhoven, Christiane Zweier, Arjan P.M. de Brouwer

    प्रकाशित 2020
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    Artigo
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  14. 14
    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”

    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” द्वारा Von Hardenberg, Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Zhang, Waheed Awotoye, Tamir Diamond, Jessica I. Gold, Catherine Gooch, Jephthah Gowans, Hákon Hákonarson, Anne Hing, Kathleen M. Loomes, Nicole Martin, Thanuja Selvanayagam, Mary L. Marazita, Tarja Mononen, David A. Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox

    प्रकाशित 2023
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Errata/Corrigenda
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  15. 15
    Role of CAMK2D in neurodevelopment and associated conditions

    Role of CAMK2D in neurodevelopment and associated conditions द्वारा Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin‐To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas A. Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, F. Ellis McKenzie, Elizabeth Bhoj, Caleb Bupp, Stéphane Bézieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung‐Chien Hsieh, Peter Krawitz, Miriam Elbracht, Danielle Veenma, Howard Schulman, Margaret M. Stratton, Sébastien Küry, Geeske M. van Woerden

    प्रकाशित 2024
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    Artigo
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  16. 16
    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants द्वारा Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloès, Amelle Shillington, Kosuke Izumi, Alyssa Ritter, Beth Keena, Elaine H. Zackai, Dong Li, Elizabeth Bhoj, Jennifer Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata‐Scalisi, Alper Gezdirici, Alberto Fernández‐Jaén, Natalie Hauser, Yuri A. Zárate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
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  17. 17
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome द्वारा Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    प्रकाशित 2020
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    Artigo
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  18. 18
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay द्वारा Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    प्रकाशित 2020
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    Artigo
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  19. 19
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants द्वारा 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

    प्रकाशित 2022
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    Artigo
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  20. 20
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature द्वारा Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Artigo
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