Suchergebnisse - Ingrid M. Wentzensen

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  1. 1
    Epidemiologic evidence for a role of telomere dysfunction in cancer etiology

    Epidemiologic evidence for a role of telomere dysfunction in cancer etiology von Jennifer Prescott, Ingrid M. Wentzensen, Sharon A. Savage, Immaculata De Vivo

    Veröffentlicht 2011
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  2. 2
    The Association of Telomere Length and Cancer: a Meta-analysis

    The Association of Telomere Length and Cancer: a Meta-analysis von Ingrid M. Wentzensen, Kari G. Rabe, Ruth M. Pfeiffer, Sharon A. Savage

    Veröffentlicht 2011
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  3. 3
    Response to androgen therapy in patients with dyskeratosis congenita

    Response to androgen therapy in patients with dyskeratosis congenita von Payal P. Khincha, Ingrid M. Wentzensen, Neelam Giri, Blanche P. Alter, Sharon A. Savage

    Veröffentlicht 2014
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  4. 4
    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability von Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer Heeley, Līvija Medne, Ian D. Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B. Henderson, Ingrid M. Wentzensen, Berivan Baskin, María J. Guillen Sacoto, Gregory D. Bowman, Hans T. Björnsson

    Veröffentlicht 2017
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  5. 5
    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies von Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche

    Veröffentlicht 2021
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  6. 6
    Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

    Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium von L. Phuong, David Malkin, Judy E. Garber, Joshua D. Schiffman, Jeffrey N. Weitzel, Louise C. Strong, Oliver Wyss, Luana Locke, Von Means, Maria Isabel Achatz, Pierre Hainaut, Thierry Frébourg, D. Gareth Evans, Eveline M. A. Bleiker, Andrea Farkas Patenaude, Katherine A. Schneider, Benjamin S. Wilfond, June A. Peters, Paul M. Hwang, James M. Ford, Uri Tabori, Simona Ognjanovic, Phillip A. Dennis, Ingrid M. Wentzensen, Mark H. Greene, Joseph F. Fraumeni, Sharon A. Savage

    Veröffentlicht 2012
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  7. 7
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation von Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Veröffentlicht 2019
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  8. 8
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction von Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    Veröffentlicht 2025
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  9. 9
    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy von Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola Thompson, Mercedes Pardo, Lu Yu, Joy Norris, Yunhui Peng, Karen W. Gripp, Kirk Aleck, Chumei Li, Ed Spence, Tae‐Ik Choi, Soo Jeong Kwon, Hee‐Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid Mahmood Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol‐Hee Kim, Erica E. Davis, Charles E. Schwartz

    Veröffentlicht 2020
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  10. 10
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder von Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Veröffentlicht 2024
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  11. 11
    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities von Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    Veröffentlicht 2021
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  12. 12
    Role of CAMK2D in neurodevelopment and associated conditions

    Role of CAMK2D in neurodevelopment and associated conditions von 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

    Veröffentlicht 2024
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  13. 13
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis von Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Veröffentlicht 2022
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  14. 14
    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum von Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia

    Veröffentlicht 2020
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  15. 15
    Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

    Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration von Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik–Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán‐Vega, Loren Peña, Edward C. Smith, Maja Steinlin, Mohamed OE Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali H. Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl‐Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler, Majid Alfadhel, Valeria Capra, Roman Chrast, Tim M. Strom, Erik‐Jan Kamsteeg, Carsten G. Bönnemann, Joseph G. Gleeson, Rudolf Martini, Carsten Janke, Jan Senderek

    Veröffentlicht 2018
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  16. 16
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder von Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Veröffentlicht 2019
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  17. 17
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies von Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Veröffentlicht 2019
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  18. 18
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability von Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    Veröffentlicht 2023
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  19. 19
    Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

    Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons von Scott C. Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan C. Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul‐Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin Herman, Joshua L. Deignan, Walla Al‐Hertani, Stéphanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink‐Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien Van‐Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, José E. Martínez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen L.I. van Gassen, Sarju Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau

    Veröffentlicht 2019
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  20. 20
    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations von Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, Øyvind L. Busk, Philippe M. Campeau, Valeria Capra, Colleen M. Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton‐Smith, Michael J. Bamshad, Dawn Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul‐Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly S. McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda Openshaw, Janice C. Palumbos, Aditi Shah Parikh, Yezmin Perilla‐Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey‐Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung‐Chien Hsieh, Keri Ramsey, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Bert B.A. de Vries, François Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

    Veröffentlicht 2024
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