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  • Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

    Nature communications

    Authors: Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M Hajdukowicz, Franziska G Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, Catharina M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam S 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 C Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K Jobling, John 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 C Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J Hamilton, Lisa J Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna M Cueto-González, Eduardo F Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J Langas, Anne M McRae, Mathieu K Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L Thompson, Molly C Schroeder, Catherine Gooch, Raphael A Smith, Arti Pandya, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger

  • Population-specific calibration and validation of an open-source bone age AI.

    Scientific reports

    Authors: Sebastian Rassmann, Luka Abashishvili, Elene Melikidze, Anastasia Sukhiashvili, Megi Lartsuliani, Ivane Chkhaidze, Nino Tskhvediani, Tinatin Gordeziani, Ekaterine Kvaratskhelia, Nino Kheladze, Maia Rekhviashvili, Salome Rodonaia, Natia Sukhitashvili, Nata Urushadze, Peter Krawitz, Tinatin Tkemaladze, Behnam Javanmardi

  • Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

    American journal of human genetics

    Authors: Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, David Geneviève, Elise Brimble, Lisa Lenaerts, Dorien Haesen, Rebecca J Levy, Julien Thevenon, Laurence Faivre, Elysa Marco, Jessica X Chong, Mike Bamshad, Karynne Patterson, Ghayda M Mirzaa, Kimberly Foss, William Dobyns, Susan M White, Lynn Pais, Emily O'Heir, Raphaela Itzikowitz, Kirsten A Donald, Celia Van der Merwe, Alessandro Mussa, Raffaela Cervini, Elisa Giorgio, Tony Roscioli, Kerith-Rae Dias, Carey-Anne Evans, Natasha J Brown, Anna Ruiz, Juan Pablo Trujillo Quintero, Rachel Rabin, John Pappas, Hai Yuan, Katherine Lachlan, Simon Thomas, Anita Devlin, Michael Wright, Richard Martin, Joanna Karwowska, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Oliver Heath, Martin Delatycki, Rebecca Buchert, Georg-Christoph Korenke, Keri Ramsey, Vinodh Narayanan, Dorothy K Grange, Judith L Weisenberg, Tobias B Haack, Stephanie Karch, Patricia Kipkemoi, Moses Mangi, Karen G C B Bindels de Heus, Marie-Claire Y de Wit, Tahsin Stefan Barakat, Derek Lim, Géraldine Van Winckel, Rebecca C Spillmann, Vandana Shashi, Maureen Jacob, Antonia M Stehr, Peter Krawitz, Gunnar Douzgos Houge, Veerle Janssens

  • Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine.

    Clinical proteomics

    Authors: Rana S Aldisi, Alsamman M Alsamman, Peter Krawitz, Carlo Maj, Hatem Zayed

  • GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.

    European journal of human genetics : EJHG

    Authors: Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, Fabio Hellmann, Silvan Mertes, Elisabeth André, Shahida Moosa, Thomas Schultz, Benjamin D Solomon, Peter Krawitz

  • Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

    EBioMedicine

    Authors: Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou, Pei-Xuan Lin, Yu-Ming Chang, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Hui-An Chen, Ni-Chung Lee, Pen-Hua Su, Tzung-Chien Hsieh, Hannah Klinkhammer, Yi-Chieh Wang, Yi-Ting Huang, Peter M Krawitz, Sheng-Hsiang Lin, Lynn L H Huang, Po-Min Chiang, Min-Hsiu Shih, Peng-Chieh Chen

  • Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions.

    Statistics in medicine

    Authors: Hannah Klinkhammer, Christian Staerk, Carlo Maj, Peter M Krawitz, Andreas Mayr

  • Epigenomic and phenotypic characterization of DEGCAGS syndrome.

    European journal of human genetics : EJHG

    Authors: Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova, Julie Paulsen, Roberto Mendoza Londono, Lucie Dupuis, Megan Dickson, Hellen Lesman, Tracy Lau, David Murphy, Khalid Hama Salih, Bassam M S Al-Musawi, Ruqayah G Y Al-Obaidi, Malgorzata Rydzanicz, Mateus Biela, Mafalda Saraiva Santos, Abdulrahman Aldeeri, Hanna T Gazda, Lynn Pais, Shirlee Shril, Henrik Døllner, Sandip Bartakke, Franco Laccone, Andrea Soltysova, Thomas Kitzler, Neveen A Soliman, Raissa Relator, Michael A Levy, Jennifer Kerkhof, Jessica Rzasa, Henry Houlden, Gabriela V Pilshofer, Tilman Jobst-Schwan, Friedhelm Hildebrandt, Sergio B Sousa, Reza Maroofian, Timothy W Yu, Peter Krawitz, Bekim Sadikovic, Sofia Douzgou Houge

  • Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

    Molecular genetics & genomic medicine

    Authors: Ibrahim M Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M Krawitz, Denise Horn, Ebtesam M Abdalla, Sheetal Kumar

  • Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

    American journal of medical genetics. Part A

    Authors: Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M Krawitz, Jason Pinner, Himanshu Goel