Katharina Steindl

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Top Venues

Science advances

Neurology. Genetics

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Laura Gogoll, Katharina Steindl, Pascal Joset, Markus Zweier, Alessandra Baumer, Christina Gerth-Kahlert, Boris Tutschek, Anita Rauch
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. American journal of medical genetics. Part A 185 (8) (2021)
Elizabeth A VanSickle, Julianne Michael, André S Bachmann, Surender Rajasekaran, Jeremy W Prokop, Ruben Kuzniecky, Floris C Hofstede, Katharina Steindl, Anita Rauch, Mark H Lipson, Caleb P Bupp
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American journal of medical genetics. Part A 185 (11) (2021)