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  • Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

    Human genetics

    Authors: Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Roseline Caumes, Perrine Charles, Nicolas Chatron, Krystyna Chrzanowska, Marta Codina-Solà, Cindy Colson, Ivon Cuscó, Anne-Sophie Denommé-Pichon, Patrick Edery, Laurence Faivre, Andrew Green, Solveig Heide, Tzung-Chien Hsieh, Alexander Hustinx, Lotte Kleinendorst, Cordula Knopp, Florian Kraft, Peter M Krawitz, Amaia Lasa-Aranzasti, Gaetan Lesca, Vanesa López-González, Julien Maraval, Cyril Mignot, Teresa Neuhann, Christian Netzer, Barbara Oehl-Jaschkowitz, Florence Petit, Christophe Philippe, Renata Posmyk, Audrey Putoux, André Reis, María José Sánchez-Soler, Julia Suh, Tinatin Tkemaladze, Frédéric Tran Mau Them, André Travessa, Laura Trujillano, Irene Valenzuela, Mieke M van Haelst, Georgia Vasileiou, Catherine Vincent-Delorme, Mona Walther, Pablo Verde, Nuria C Bramswig, Dagmar Wieczorek

  • Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank.

    Frontiers in genetics

    Authors: Emadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, Rana Aldisi, Yi-Lun Lee, Dheeraj Bobbili, Peter Krawitz, Patrick May, Chien-Yu Chen, Carlo Maj

  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

    The Journal of clinical investigation

    Authors: Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle Gm Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou, Nora O'Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan C Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond J Louie, Michael J Lyons, Jessica Douglas, Catherine B Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni-Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Bruel Ange-Line, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Ce Hurst, Michelle L Thompson, Ryan J Schmidt, Linda M Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Abdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane Mr Rosser, Cheryl Shoubridge, Mark A Corbett, Christopher Barnett, Jozef Gecz, Kathleen A Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert Ba de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson

  • Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.

    Pediatric radiology

    Authors: Sebastian Rassmann, Alexandra Keller, Kyra Skaf, Alexander Hustinx, Ruth Gausche, Miguel A Ibarra-Arrelano, Tzung-Chien Hsieh, Yolande E D Madajieu, Markus M Nöthen, Roland Pfäffle, Ulrike I Attenberger, Mark Born, Klaus Mohnike, Peter M Krawitz, Behnam Javanmardi

  • Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity.

    American journal of medical genetics. Part A

    Authors: Luis A La Rocca, Julia Frank, Heidi Beate Bentzen, Jean Tori Pantel, Konrad Gerischer, Peter M Krawitz, Anton Bovier

  • [Next-generation phenotyping in rare diseases with facial dysmorphism].

    Innere Medizin (Heidelberg, Germany)

    Authors: Peter Krawitz

  • Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.

    Current protocols

    Authors: Tzung-Chien Hsieh, Hellen Lesmann, Peter M Krawitz

  • Prevalence and determinants of subretinal drusenoid deposits in patients' first-degree relatives.

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    Authors: Matthias M Mauschitz, Benedikt J Hochbein, Hannah Klinkhammer, Marlene Saßmannshausen, Jan H Terheyden, Peter Krawitz, Robert P Finger

  • Gene-based burden scores identify rare variant associations for 28 blood biomarkers.

    BMC genomic data

    Authors: Rana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, Andreas Buness, Hannah Klinkhammer, Andreas Mayr, Holger Fröhlich, Peter Krawitz, Carlo Maj

  • Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

    American journal of medical genetics. Part C, Seminars in medical genetics

    Authors: Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli