Výsledky vyhledávání - Jan Liebelt

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  1. 1
    Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

    Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants Autor Jessica C. Gardner, Gerald Liew, Yinghua Quan, Burcu Ermetal, Hisao Ueyama, Alice E. Davidson, Nele Schwarz, Naheed Kanuga, Ravinder Chana, Eamonn R. Maher, Andrew R. Webster, Graham E. Holder, Anthony G. Robson, Michael E. Cheetham, Jan Liebelt, Jonathan B. Ruddle, Anthony T. Moore, Michel Michaelides, Alison J. Hardcastle

    Vydáno 2014
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  2. 2
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) Autor Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W. T. Chung, Alison Colley, Robyn V. Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella, Mark R. Davis, Samantha Edwards, Alison D. Archibald, Julie McGaughran, Ainsley J. Newson, Nigel G. Laing, Martin B. Delatycki

    Vydáno 2020
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  3. 3
    Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum

    Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum Autor Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie‐Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva‐Lena Stattin, Jan Liebelt, Klaus‐Michael Keller, Débora Romeo Bertola, Clara van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos Venegas-Vega, Nienke E. Verbeek, Erick Richmond, Özgür Kırbıyık, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt, Martin Zenker

    Vydáno 2014
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  4. 4
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains Autor 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

    Vydáno 2017
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  5. 5
    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation Autor Alison D. Archibald, Belinda McClaren, Jade Caruana, Erin Tutty, Emily King, Jane Halliday, Stephanie Best, Anaita Kanga‐Parabia, Bruce Bennetts, Corrina Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow‐Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin Downes, Mathew Wallis, Monica Ferrie, Nicholas Pachter, Paul Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan Walker, Tiffany Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki

    Vydáno 2022
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  6. 6
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Autor 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

    Vydáno 2017
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  7. 7
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome Autor Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Vydáno 2018
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  8. 8
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Autor 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

    Vydáno 2017
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  9. 9
    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis... Autor Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Uhas, Linlea Armstrong, Katherine A. Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, L. Kate Clarkson, Maurizio Clementi, Fanny Cortés, Mitch Cunningham, Daniela D’Agostino, Martin B. Delatycki, M. Cristina Digilio, Laura Dosa, Silvia Esposito, Stéphanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison L. Goetsch, Yael Goldberg, Robert Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley McGregor, Daniela Melis, Nancy J. Mendelsohn, Małgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Enikö K. Pivnick, Dinel Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman‐Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke van den Ende, Samantha A. Schrier Vergano, Stephanie E Wallace, Michael F. Wangler, David D. Weaver, Kaleb Yohay, Elaine H. Zackai, Jonathan Zonana

    Vydáno 2019
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  10. 10
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Autor Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    Vydáno 2023
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  11. 11
    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders

    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders Autor Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N. D’Souza, Shan Dong, Jamie M. Ellingford, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Carey‐Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Christina Grant, Tobias B. Haack, Alma Kuechler, Seema R. Lalani, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, T. Maurer, Rodrigo Mendez, Stephen B. Montgomery, Marie‐Cécile Nassogne, Serena Neumann, Melanie O’Leary, Elizabeth E. Palmer, John A. Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Éric Vilain, David Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica H. Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L.R. Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M. Fica, Diana Baralle, Christel Depienne, Daniel G. MacArthur, Joanna M. M. Howson, Stephan Sanders, Anne O’Donnell‐Luria, Nicola Whiffin

    Vydáno 2024
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  12. 12
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Autor Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, T. Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil

    Vydáno 2024
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