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  • Further characterization of the BRSK2-associated neurodevelopmental disorder.

    European journal of human genetics : EJHG

    Authors: Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke, Elena Bacchelli, Marta Viggiano, Elena Maestrini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Alessandro Vaisfeld, Carey Ronspies, Sarah Burke, Joana Rosmaninho Salgado, Joaquim Sá, Sara Ribeiro, Amelle Shillington, Anjali Aggarwal, Christina Dailey, Carol Saunders, Florencia Del Viso, Chaya N Murali, Melissa MacPherson, Oana Caluseriu, Alain Verloes, Jonathan Levy, Yline Capri, Hannah S Kemmer, Manuel Holtgrewe, Philip M Boone, Lance Rodan, Georgia Vasileiou, Melissa Pauly, André Reis, Isabella Herman, Ivy Johnson, Himanshu Goel, Ana Maria Rodriguez Barreto, Flavio Faletra, Catia Mio, Mona L Essawi, Heba A Hassan, Wessam E Sharaf-Eldin, Nirmeen Kishk, Giuseppe Donato Mangano, Renata Mangano, Andrea K Shields, Judith D Ranells, Trine Bjørg Hammer, Clara Velmans, Christian Netzer, Nora Winnerling, Konstantinos Kolokotronis, Benjamin Seidl, Anita Rauch, Alberto Fernandez-Jaen, Aboulfazl Rad, Gabriela Oprea, Paskal Cullufi, Sonila Tomori, Claire Beneteau, Marine Legendre, Caroline Rooryck, Hannah Klinkhammer, Tobias B Haack, Amjad Khan, Johanna Kick, Deborah Bartholdi, Dominique Braun, Erin E Baldwin, David H Viskochil, Lorenzo D Botto, Anna LaGroon, Emily Black, Kameryn M Butler, Emmanuelle Ranza, Manon Macherel, Vincent Desportes, Mathilde Pujalte, Louis Januel, Boris Keren, Cyril Mignot, Madeleine Harion, Maartje L E Voors, Charlotte W Ockeloen, Javier Porta-Pelayo, Bernt Popp, Peter Krawitz, Heinrich Sticht, Anne Gregor, Christiane Zweier

  • Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study.

    PLoS medicine

    Authors: Michael C Thrun, Jörg Hoffmann, Stefan W Krause, Peter Krawitz, Quirin Stier, Andreas Neubauer, Cornelia Brendel, Alfred Ultsch

  • Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.

    Neurology. Genetics

    Authors: Tzung-Chien Hsieh, Dylan Todd, Taylor Warner, Kayla Blankenship, Dimah Saade, Hannah Weiland, Meghna Ahuja Bhasin, Hannah Klinkhammer, Jing-Mei Li, Peter Krawitz, Wei-Liang Chen, Ho-Ming Luk, Moon Ley Tung, Bharatendu Chandra

  • Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

    Genetics in medicine : official journal of the American College of Medical Genetics

    Authors: Silvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, Céline Huber, Elsa Ferriere, Benjamin Fournier, Morgane Cheminant, Martin Castelle, Paul Bastard, Nicolas Noel, Katia Bourdic, Capucine Picard, Despina Moshous, Virginie Courteille, Nizar Mahlaoui, Jacinta Bustamante, Gislène Collobert, Cyril Mignot, Boris Keren, Séverine Drunat, Sophie Rondeau, Alexia Rabec, Alicia Besson, Nicolas Chatron, Gaetan Lesca, Audrey Laurent, Jérémie Mortreux, Marine Serveaux Dancer, Gabriel Dejeans, Claire Poggi, Radka Stoeva, Alissandre Lecordier, Céline Poirsier, Anne Dieux, Francoise Sarrot-Reynauld, Béatrice Laudier, Maelle Le Besnerais, Anne-Marie Guerrot, Mathilde Nizon, Benjamin Cogne, Bertrand Isidor, Sophie Julia, Sarra Bouri, Mathieu Fusaro, Marjolaine Willems, Narcisse Elenga, Succès Remadji Dobian, Mody Diop, Salomé Pacaud, Claire Dichamp, Elisabeth Sarrazin, Amaia Lasa-Aranzasti, Eduardo Fidel Tizzano, Ivon Cusco Marti, Andrea Martin Nalda, Ana Felipe-Rucián, David Gómez-Andres, Marta Codina-Solà, Paula Fernandez, Jacques Gabriel Riviere, Pere Soler-Palacín, Alberto Fernández-Jaén, Teresa Carrión-Mera, Insa Borgmann, Christin Johnsen, Lars Schlotawa, Matthias Kettwig, Jessica Hoffmann, Christiane Lex, Carsten Speckmann, Sandra von Hardenberg, Martin Wetzke, Victoria G Paul, Matthias Vockel, Judit Horvath, Andreas Busche, Niklas Hirschberger, Moneef Shoukier, Isabel Filges, Julie De Geyter, Tahsin Stefan Barakat, Isabella Borg, Anna Kłosowska, Lena Głuszkiewicz, Stephanie Allen, Deirdre Cilliers, Patricia Ann Foley, Sally Ann Lynch, Ciara McDonnell, Ivona Sansović, Ljubica Odak, Katarina Vulin, Janni Majgaard Jensen, Inge Søkilde Pedersen, Anja Ernst, Elifcan Taşdelen, Mustafa Kılıç, Esra Kılıç, Umut Altunoğlu, Burak Tatlı, Burcu Akman, Ravza Nur Yıldırım, Semra Gürsoy, Özlem Giray Bozkaya, Marcello Niceta, Cecilia Mancini, Andrea Ciolfi, Giulia Severi, Marilù Capelli, Daniela Melis, Roberta Onesimo, Chiara Leoni, Diana Carli, Alessandro Mussa, Giuseppe Zampino, Andrea Citterio, Claudio Graziano, Ilaria Donati, Maria Accadia, Luigi Bisceglia, Alessandro Bruselles, Marco Tartaglia, Tania Barragán-Arévalo, Philip M Boone, Ryan W Nelson, Sara Cabet, Annabelle Arlt, Alexander Hustinx, Hannah Klinkhammer, Peter Krawitz, Jeanne Amiel, Auragen Consortium, Irene Valenzuela Palafoll, Felipe Suarez, Marion Delous, Sylvie Mazoyer, Patrick Edery, Audrey Putoux

  • Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Nature genetics

    Authors: Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin

  • Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

    Human genome variation

    Authors: Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz

  • Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

    Movement disorders : official journal of the Movement Disorder Society

    Authors: Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M Stehr, Peter M Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G Christoph Korenke, Michael Zech

  • Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

    American journal of human genetics

    Authors: Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M Bertoli-Avella, Salem Alawbathani, Elizabeth E Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A L Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche

  • Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Nature genetics

    Authors: Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinetvin, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin

  • Investigations on transferability of polygenic risk scores depending on demography and dominance coefficients.

    HGG advances

    Authors: Leonie Fohler, Edita Latifi, Andreas Mayr, Carlo Maj, Christian Staerk, Hannah Klinkhammer, Peter M Krawitz