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Articles by Peter Krawitz
Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation
Abstract Evaluating hand and wrist radiographs is essential in pediatric endocrinology and clinical genetics, particularly for the assessment of suspected skeletal anomalies. In this study, we present Auto-Bone-Caliper, an automated system for the segmentation and length measurement of metacarpal and phalangeal (M&P) bones, trained and evaluated on public datasets comprising both normal and dysmorphic cases.
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
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Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02554-6, published online 8 April 2026. In the version of this article initially published, the last name of Christel Thauvin-Robinet was misspelled (Thauvin-Robinetvin) and is now amended in the HTML and PDF versions of the article.
By Rocio Rius, Alexander Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogné, Hyung Chul Kim, Javeria R. Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina A. Austin-Tse, Sarah I. Baer, Meena Balasubramanian, Elsa V. Balton, Giulia Barcia, Jonathan Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C. Bramswig, Frederik Braun, Daniel G. Calame, Jamie Campbell, Charles Coutton, Chloe Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M. Dipple, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Lisa J. Ewans, Vanessa Geiger, Richard Gibbs, Ian Glass, Olivier GRUNEWALD, Paul Gueguen, Tobias B. Haack, Radu Harbuz, Ingo Helbig, Judit M. Horváth, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G. Christoph Korenke, Peter Krawitz, Steven S. Laurie, Richard J. Leventer, Rebecca J. Levy, James R. Lupski, Pierre Marijon, Kaitlin McGinnis, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Olfa Messaoud, Caroline Nava, Anne H. O’Donnell-Luria, Melanie O’Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Jennifer E. Posey, Chloe Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Catherine Vincent-Delorme, Evangeline Wassmer, Matthew Wheeler, Elif Güleç, Adeline Vanderver, Arastoo Vossough, Stephan Sanders, Siddharth Banka, Gregory M. Findlay, Daniel MacArthur, Cas Simons, Nicola Whiffin, Ana Beleza-Meireles, Daniel Buchzik, Anne Dieux, Fraser Jamie, Urania Kotzaeridou, Mevyn Nizard, Anna Jenne Prentice, Sandra Ueberberg
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Nature
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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
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Keywords DNA replication hypomorphic variants microcephaly checkpoint sister chromatid cohesion WDHD1 DNA replication stress genomic integrity Meier-Gorlin syndrome replication fork Introduction Duplication of genomic material is essential for cellular proliferation and is initiated at origins of replication during the late G1 phase of the cell cycle, followed by efficient DNA synthesis in the subsequent S phase.
By Debora Tibbe, Marie Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, 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 El Sabbagh, Aida M. Bertoli-Avella, Elizabeth Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Andreas R. Janecke, Nikolay N. Zernov, Maria Arismendi, Alexander A.L. Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche, Moneef Shoukier, Christoph Bagowski, Salem Alawbathani, Elisabeth Steichen-Gersdorf, Anatoly Tiulpakov
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The American Journal of Human Genetics
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DNA methylation signature and clinical delineation of PACS1 -related disorder in 24 unreported individuals
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Abstract PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Although core clinical features have been delineated, systematic data on developmental milestones, growth parameters, and clinical variability remain limited.
By Quentin Sabbagh, Sadegheh Haghshenas, Jean-Luc Alessandri, Mads Bak, Allan Bayat, Alfredo Brusco, Tiffany Busa, Paige Calvert, Valérie Cormier-Daire, Yannis Duffourd, Anne Guimier, Laetitia Lambert, Gaetan Lesca, Nicolas Chatron, Michael Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godeliève Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Audrey Putoux, Marlene Rio, Massimiliano Rossi, Nathalie Ruiz-Pallares, Stefano Pagano, Filippo M Santorelli, Clément Sauvestre, Jennifer C. Schymick, Victoria Mok Siu, Matthew L. Tedder, Frédéric Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève, Camille Cenni, Mouna Barat-Houari, Anaïs Calaya, Christine Coubes, Giovanni B. Ferrero, Damien Haye, Tina Duelund Hjortshøj, Carolyn Lauzon-Young, Lucile Pinson, Linda Pons, Lucie Rouaux, Flavien Rouxel, Elodie Sanchez, Marta Spodenkiewicz, Mylène Tharreau, Janneke H. M. Schuurs-Hoeijmakers
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Nature
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Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
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Keywords non-muscle actinopathies cytoskeleton cytoskeletal actin ACTB ACTG1 Baraitser-Winter cerebrofrontofacial syndrome ACTB-related dystonia-deafness syndrome hearing loss Introduction The ability to make accurate diagnoses, reliably estimate prognoses, and having a deep understanding of underpinning molecular and disease mechanisms are prerequisites to developing precision medicine approaches for genetic disorders.
By Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve, Juan E. Cadiñanos, Brian Chung, Heidi Cope, María Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew Fry, Livia Garavelli, Sabine Hoffjan, Wibke G. Janzarik, Grazia Pierantoni Mancini, Andrea Meinhardt, Indra Niehaus, Fernando Simarro, Evelin Schröck, Anja Marquardt, Manuel H. Taft, Sofia Thunström, Judith M. A. Verhagen, Alain Verloes, Bernd Wollnik, Peter Krawitz, Tzung-Chien Hsieh, Michael Seifert, Michael Heide, Catherine Lawrence, Neil Roberts, Dietmar J. Manstein, Adrian S. Woolf, Siddharth Banka, Salvatore Calabro, Sara Cathey, Insa Kreimer, Purificacion Marin-Reina, Daniela Pilz, Ivana Ricca, Kamer Tezcan
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The American Journal of Human Genetics
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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene - Nature Machine Intelligence
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Abstract Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be established sufficiently early.
By Nikolas Pontikos, William Woof, Siying Lin, Biraja Ghoshal, Bernardo Mendes, Quang Nguyen, Behnam Javanmardi, Alexander Hustinx, Miguel A. Ibarra-Arellano, Ismail Moghul, Mital Shah, Saoud Al-Khuzaei, Siegfried Wagner, Malena Daich Varela, Sagnik Sen, Gunjan Naik, Dayyanah Sumodhee, Nathaniel Kabiri, Jennifer L. Furman, Bart Liefers, Caio Marques, Yu Fujinami-Yokokawa, Alison Hardcastle, Birgit Lorenz, Juliana M. Sallum, Susan Downes, Frank G. Holz, Konstantinos Balaskas, Andrew Webster, Omar A. Mahroo, Peter Krawitz, Advaith Veturi
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Nature
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Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene - European Journal of Human Genetics
Abstract The diagnosis of rare genetic disorders often involves prolonged delays, with facial features serving as key diagnostic clues. Next-Generation Phenotyping (NGP) tools, such as Face2Gene, utilize Artificial Intelligence (AI)-driven algorithms to analyze patient photographs and list differential diagnoses based on facial dysmorphism. Despite their growing use and proven clinical value, their integration into clinical workflows remains poorly understood.
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
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1Laboratory of Protein Phosphorylation and Proteomics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium 2KU Leuven Institute for Rare Diseases (Leuven.IRD), Leuven, Belgium 3Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway 4Department of Clinical Science, University of Bergen, Bergen, Norway 5Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn,...
By Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, David Geneviève, Elise Brimble, Dorien Haesen, Julien Thevenon, Laurence Faivre, Elysa J. Marco, Jessica X. Chong, Karynne Patterson, Ghayda M. Mirzaa, Kimberly Foss, William B. Dobyns, Susan White, Lynn Pais, Emily O’Heir, Kirsten A Donald, Alessandro Mussa, Elisa Giorgio, Tony Roscioli, Kerith-Rae Dias, Natasha Brown Verified, Anna Ruiz, Rachel A. Rabin, John Pappas, Hai Yuan, Katherine Lachlan, Simon Thomas Verified, Anita Devlin, Michael Wright Verified, Richard Martin, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Oliver Heath, Martin B. Delatycki, Rebecca Buchert, Keri Ramsey, Vinodh Narayanan, Dorothy K. Grange, Tobias B. Haack, Patricia Kipkemoi, Tahsin Stefan Barakat, Derek H. Lim, Geraldine van Winckel, Rebecca C. Spillmann, Vandana Shashi, Maureen Jacob, Antonia M. Stehr, Peter Krawitz, Gunnar Houge, Veerle Janssens, Lisa Lenaerts, Mike Bamshad, Raphaela Itzikowitz, Raffaela Cervini, Carey-Anne Evans, Joanna Karwowska, Georg-Christoph Korenke, Judith L. Weisenberg, Stephanie Karch, Moses Mangi
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The American Journal of Human Genetics
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Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
Keywords TOM complex iPSC-derived endothelial cells Cerebrovascular disease Mitochondrial protein import Mitochondrial respiration Glycolysis Evidence before this study The majority of mitochondrial proteins are synthesized as precursors in the cytosol and imported into mitochondria by the translocase of outer mitochondrial membrane (TOM) complex. Mitochondrial diseases caused by impaired mitochondrial import machinery are phenotypically heterogeneous.
Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions
1 Introduction Polygenic risk scores (PRS) aim to capture the individual's predisposition to various traits (diseases or clinical outcomes) influenced by genetics. Often, those traits are biologically complex diseases or phenotypes and present specific problems such as polygenicity and heterogeneity that require tailored statistical methods [1, 2].
Nutrients | Free Full-Text | Beneficial Effects of Synbiotics on the Gut Microbiome in Individuals with Low Fiber Intake: Secondary Analysis of a Double-Blind, Randomized Controlled Trial
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Boosting polygenic risk scores
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