Recent publications

   2023

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

Forwood, C., Ashton, K., Zhu, Y., Zhang, F., Dias, K.-R., Standen, K., Evans, C.-A., Carey, L., Cardamone, M., Shalhoub, C., Katf, H., Riveros, C., Hsieh, T.-C., Krawitz, P., Robinson, P. N., Dudding-Byth, T., Sadikovic, B., Pinner, J., Buckley, M. F., & Roscioli, T.

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 193C:e32056.


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

Lyon, GJ, Vedaie, M, Besheim, T, Park, A, Marchi, E, Gottlieb, L, Hsieh, T, Klinkhammer, H, Sandomirsky, K, Cheng, H, Starr, LJ, Preddy, I, Tseng, M, Li, Q, Hu, Y, Wang, K, Carvalho, A, Martinez, F, Caro-Llopis, A, Gavin, M, Amble, K, Krawitz, P, Marmorstein, R, and Herr-Israel, E (2023).

BMC Genom Data 24, 50 (2023)


Next-generation phenotyping in rare diseases with facial dysmorphism

Krawitz, P.

Innere Medizin 64, 1041–1043 (2023


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

Hassanin E, Lee K-H, Hsieh T-C, Aldisi R, Lee Y-L, Bobbili D, Krawitz P, May P, Chen C-Y and Maj C 

Front. Genet. 14:1286561


GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

Da Wu and Jingye Yang and Cong Liu and Tzung-Chien Hsieh and Elaine Marchi and Justin Blair and Peter Krawitz and Chunhua Weng and Wendy Chung and Gholson J. Lyon and Ian D. Krantz and Jennifer M. Kalish and Kai Wang

arXiv 2312.15320


AI-based multi-PRS models outperform classical single-PRS models

Klau, Jan Henric and Maj, Carlo and Klinkhammer, Hannah and Krawitz, Peter M. and Mayr, Andreas and Hillmer, Axel M. and Schumacher, Johannes and Heider, Dominik

Frontiers in Genetics


Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome    

Dueñas N, Klinkhammer H, Bonifaci N, et al

Journal of Medical Genetics


Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Axel Schmidt, Sebastian Röner, Karola Mai, Hannah Klinkhammer, Martin Kircher, Kerstin U Ludwig

Bioinformatics


Boosting multivariate structured additive distributional regression models    

Annika Strömer, Nadja Klein, Christian Staerk, Hannah Klinkhammer, Andreas Mayr

Statistics in Medicine


Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives

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

Graefe's Archive for Clinical and Experimental Ophthalmology 


Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history

E Hassanin, C Maj, H Klinkhammer, P Krawitz, P May, DR Bobbili

BMC Medical Genomics 16 (1), 1-11


Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

Emadeldin Hassanin, Isabel Spier, Dheeraj R Bobbili, Rana Aldisi, Hannah Klinkhammer, Friederike David, Nuria Dueñas, Robert Hüneburg, Claudia Perne, Joan Brunet, Gabriel Capella, Markus M Nöthen, Andreas J Forstner, Andreas Mayr, Peter Krawitz, Patrick May, Stefan Aretz, Carlo Maj

BMC Medical Genomics


Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer”

Timo Hess, Carlo Maj, Jan Gehlen, Oleg Borisov, Stephan L Haas, Ines Gockel, Michael Vieth, Guillaume Piessen, Hakan Alakus, Yogesh Vashist, Carina Pereira, Michael Knapp, Vitalia Schüller, Alexander Quaas, Heike I Grabsch, Jessica Trautmann, Ewa Malecka-Wojciesko, Anna Mokrowiecka, Jan Speller, Andreas Mayr, Julia Schröder, Axel M Hillmer, Dominik Heider, Florian Lordick, Ángeles Pérez-Aísa, Rafael Campo, Jesús Espinel, Fernando Geijo, Concha Thomson, Luis Bujanda, Federico Sopeña, Ángel Lanas, María Pellisé, Claudia Pauligk, Thorsten Oliver Goetze, Carolin Zelck, Julian Reingruber, Emadeldin Hassanin, Peter Elbe, Sandra Alsabeah, Mats Lindblad, Magnus Nilsson, Nicole Kreuser, René Thieme, Francesca Tavano, Roberta Pastorino, Dario Arzani, Roberto Persiani, Jin-On Jung, Henrik Nienhüser, Katja Ott, Ralf R Schumann, Oliver Kumpf, Susen Burock, Volker Arndt, Anna Jakubowska, Małgorzta Ławniczak, Victor Moreno, Vicente Martín, Manolis Kogevinas, Marina Pollán, Justyna Dąbrowska, Antonio Salas, Olivier Cussenot, Anne Boland-Auge, Delphine Daian, Jean-Francois Deleuze, Erika Salvi, Maris Teder-Laving, Gianluca Tomasello, Margherita Ratti, Chiara Senti, Valli De Re, Agostino Steffan, Arnulf H Hölscher, Katharina Messerle, Christiane Josephine Bruns, Armands Sīviņš, Inga Bogdanova, Jurgita Skieceviciene, Justina Arstikyte, Markus Moehler, Hauke Lang, Peter P Grimminger, Martin Kruschewski, Nikolaos Vassos, Claus Schildberg, Philipp Lingohr, Karsten Ridwelski, Hans Lippert, Nadine Fricker, Peter Krawitz, Per Hoffmann, Markus M Nöthen, Lothar Veits, Jakob R Izbicki, Adrianna Mostowska, Federico Martinón-Torres, Daniele Cusi, Rolf Adolfsson, Geraldine Cancel-Tassin, Aksana Höblinger, Ernst Rodermann, Monika Ludwig, Gisela Keller, Andres Metspalu, Hermann Brenner, Joerg Heller, Markus Neef, Michael Schepke, Franz Ludwig Dumoulin, Lutz Hamann, Renato Cannizzaro, Michele Ghidini, Dominik Plaßmann, Michael Geppert, Peter Malfertheiner, Olivier Glehen, Tomasz Skoczylas, Marek Majewski, Jan Lubiński, Orazio Palmieri, Stefania Boccia, Anna Latiano, Nuria Aragones, Thomas Schmidt, Mário Dinis-Ribeiro, Rui Medeiros, Salah-Eddin Al-Batran, Mārcis Leja, Juozas Kupcinskas, María A García-González, Marino Venerito, Johannes Schumacher

EBioMedicine


Editorial–Diagnostic genome sequencing in rare disorders

Peter Krawitz, Tobias B Haack

Medizinische Genetik


Episignature analysis of moderate effects and mosaics

Konrad Oexle, Michael Zech, Lara G Stühn, Sandy Siegert, Theresa Brunet, Wolfgang M Schmidt, Matias Wagner, Axel Schmidt, Hartmut Engels, Erik Tilch, Olivier Monestier, Anne Destrėe, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank Kaiser, Bernhard Haslinger, Tobias B Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza-Schreiber

European Journal of Human Genetics


Dissecting the genetic heterogeneity of gastric cancer

Timo Hess, Carlo Maj, Jan Gehlen, Oleg Borisov, Stephan L Haas, Ines Gockel, Michael Vieth, Guillaume Piessen, Hakan Alakus, Yogesh Vashist, Carina Pereira, Michael Knapp, Vitalia Schüller, Alexander Quaas, Heike I Grabsch, Jessica Trautmann, Ewa Malecka-Wojciesko, Anna Mokrowiecka, Jan Speller, Andreas Mayr, Julia Schröder, Axel M Hillmer, Dominik Heider, Florian Lordick, Ángeles Pérez-Aísa, Rafael Campo, Jesús Espinel, Fernando Geijo, Concha Thomson, Luis Bujanda, Federico Sopeña, Ángel Lanas, María Pellisé, Claudia Pauligk, Thorsten Oliver Goetze, Carolin Zelck, Julian Reingruber, Emadeldin Hassanin, Peter Elbe, Sandra Alsabeah, Mats Lindblad, Magnus Nilsson, Nicole Kreuser, René Thieme, Francesca Tavano, Roberta Pastorino, Dario Arzani, Roberto Persiani, Jin-On Jung, Henrik Nienhüser, Katja Ott, Ralf R Schumann, Oliver Kumpf, Susen Burock, Volker Arndt, Anna Jakubowska, Małgorzta Ławniczak, Victor Moreno, Vicente Martín, Manolis Kogevinas, Marina Pollán, Justyna Dąbrowska, Antonio Salas, Olivier Cussenot, Anne Boland-Auge, Delphine Daian, Jean-Francois Deleuze, Erika Salvi, Maris Teder-Laving, Gianluca Tomasello, Margherita Ratti, Chiara Senti, Valli De Re, Agostino Steffan, Arnulf H Hölscher, Katharina Messerle, Christiane Josephine Bruns, Armands Sīviņš, Inga Bogdanova, Jurgita Skieceviciene, Justina Arstikyte, Markus Moehler, Hauke Lang, Peter P Grimminger, Martin Kruschewski, Nikolaos Vassos, Claus Schildberg, Philipp Lingohr, Karsten Ridwelski, Hans Lippert, Nadine Fricker, Peter Krawitz, Per Hoffmann, Markus M Nöthen, Lothar Veits, Jakob R Izbicki, Adrianna Mostowska, Federico Martinón-Torres, Daniele Cusi, Rolf Adolfsson, Geraldine Cancel-Tassin, Aksana Höblinger, Ernst Rodermann, Monika Ludwig, Gisela Keller, Andres Metspalu, Hermann Brenner, Joerg Heller, Markus Neef, Michael Schepke, Franz Ludwig Dumoulin, Lutz Hamann, Renato Cannizzaro, Michele Ghidini, Dominik Plaßmann, Michael Geppert, Peter Malfertheiner, Olivier Gehlen, Tomasz Skoczylas, Marek Majewski, Jan Lubiński, Orazio Palmieri, Stefania Boccia, Anna Latiano, Nuria Aragones, Thomas Schmidt, Mário Dinis-Ribeiro, Rui Medeiros, Salah-Eddin Al-Batran, Mārcis Leja, Juozas Kupcinskas, María A García-González, Marino Venerito, Johannes Schumacher

EBioMedicine


PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina MW Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn CJ Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

Science Translational Medicine


GANonymization: A GAN-based Face Anonymization Framework for Preserving Emotional Expressions

Fabio Hellmann, Silvan Mertes, Mohamed Benouis, Alexander Hustinx, Tzung-Chien Hsieh, Cristina Conati, Peter Krawitz, Elisabeth André

arXiv:2305.02143


Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel

European Journal of Human Genetics
 


The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch

European Journal of Human Genetics


Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu, Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L Wang, Wolfram Antonin, Ron D Jachimowicz, Verena von Felbert, Felix Distelmaier

Genetics in Medicine


Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history 2023.03. 20.23287470

Emadeldin Saeed Fathy Sayed Hassanin, Carlo Maj, Peter Krawitz, Patrick May, Dheeraj Reddy Bobbili

Cold Spring Harbor Laboratory Press


Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L Mehrem, Ariane C Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada‐Iglesias, Michaela Bartusel, Augusto Rojas‐Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M Nöthen, Michael Nothnagel, Tim Becker, Kerstin U Ludwig, Elisabeth Mangold

Molecular Genetics & Genomic Medicine


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

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

BMC Genomic Data


PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler

Frontiers in cell and developmental biology


Region-based Saliency Explanations on the Recognition of Facial Genetic Syndromes

Ömer Sümer, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Dat Duong, Peter Krawitz, Cristina Conati, Benjamin D Solomon, Elisabeth André

Frontiers in Molecular Medicine, 2, 933383.


Trans-ancestry polygenic models for the prediction of LDL blood levels: An analysis of the UK Biobank and Taiwan Biobank

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

medRxiv


Human and computer attention in assessing genetic conditions

Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, Chris Fortney, Fabio Hellmann, Ping Hu, Behnam Javanmardi,  View ORCID ProfileShahida Moosa, Tanviben Patel, Susan Persky, Ömer Sümer, Cedrik Tekendo-Ngongang, Tzung-Chien Hsieh, Rebekah L. Waikel, Elisabeth André,  View ORCID ProfilePeter Krawitz, Benjamin D. Solomon

medRxiv


Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Boesch, Claudia Weiss, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Buehrer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Tim Bender, Martin Muecke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Andre Heimbach, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S Schaefer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet oender, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Koerholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schroeck, Andre Heinen, Ulrike Reuner, Amalia-Mihaela Hansske, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva MC Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Muenchau, Katja Lohmann, Irina Huening, Britta Hanker, Tobias Baeumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S Westphal, Tim Strom, Reka Kovacs, Korbinian M Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schroeder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Mueller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Woedl

medRxiv


Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history

Emadeldin Hassanin, Carlo Maj, Peter Krawitz, Patrick May, Dheeraj Reddy Bobbili

medRxiv


O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors

H Klinkhammer, H Lesmann, S Moosa, A Hustinx, B Javanmardi, ...

Genetics in Medicine Open 1 (1)


P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh

Genetics in Medicine Open


P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Gholson Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Lois Starr, Katherine Sandomirsky, Hanyin Cheng, Isabelle Preddy, Marcellus Tseng, Quan Li, Kai Wang, Maureen Gavin, Karen Amble, Ronen Marmorstein, Ellen Herr-Israel, Randie Harpell, Melissa Nashat, Ning Ma, Nadjet Belbachir, Joseph Wu, Tzung-Chien Hsieh, Peter Krawitz, Alan Rope, Frederick Monsma, Josephine Wesely, Yu-Ren Chen, Christopher Hunter, Lauren Bauer, Tom Rusielewicz, Stephen Kneeland, Cat Lutz, Kathy Snow, Steve Murray, Andrea Gropman, Matthew Whitehead, Andrew Garcia, Fatima Inusa, Joseph Longo, Nicole Fleischer, David Bolton, Martin Reese, Yu Hu

Genetics in Medicine Open 1 (1)


Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

Alexander Hustinx, Fabio Hellmann, Ömer Sümer, Behnam Javanmardi, Elisabeth André, Peter Krawitz, Tzung-Chien Hsieh

Proceedings of the IEEE/CVF Winter Conference on Applications of Computer Vision


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