2022
Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol
Carlo Maj, Christian Staerk, Oleg Borisov, Hannah Klinkhammer, Ming Wai Yeung, Peter Krawitz, Andreas Mayr
Genetic epidemiology
Colorectal cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history
Emadeldin Hassanin, Dheeraj Bobbili, Rana Aldisi, Friederike David, Hannah Klinkhammer, Nuria Duenas, Andreas Mayr, Markus Nothen, Robert Huneburg, Andreas Forstner, Isabel Spier, Patrick May, Peter Krawitz, Carlo Maj, Stefan Aretz
ONCOLOGY RESEARCH AND TREATMENT
Expanding the Phenotypic spectrum of Ogden syndrome (NAA10-related neurodevelopmental syndrome) and NAA15-related neurodevelopmental syndrome
Gholson J Lyon, Marall Vedaie, Travis Besheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Katherine Sandomirsky, H Cheng, I Preddy, M Tseng, Q Li, K Wang, M Gavin, K Amble, R Marmorstein, E Herr-Israel
medRxiv
GenRisk: a tool for comprehensive genetic risk modeling
Aldisi, R, Hassanin, E, Sivalingam, S, Buness, A, Klinkhammer, H, Mayr, A, Fröhlich, H, Krawitz, P, and Maj, C (2022).
Bioinformatics:btac152.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
Basmanav, FB, Cesarato, N, Kumar, S, Borisov, O, Kokordelis, P, Ralser, DJ, Wehner, M, Axt, D, Xiong, X, Thiele, H, Dolgin, V, Gossmann, Y, Fricker, N, Dewenter, MK, Weller, K, Suri, M, Reichenbach, H, Oji, V, Addor, M, Ramirez, K, Stewart, H, Garcia Bartels, N, Weibel, L, Wagner, N, George, S, Kilic, A, Tantcheva-Poor, I, Stewart, A, Dikow, N, Blaumeiser, B, Medvecz, M, Blume-Peytavi, U, Farrant, P, Grimalt, R, Bertok, S, Bradley, L, Eskin-Schwartz, M, Birk, OS, Bygum, A, Simon, M, Krawitz, P, Fischer, C, Hamm, H, Fritz, G, and Betz, RC (2022).
JAMA Dermatology, 158(11):1245--1253.
Combining callers improves the detection of copy number variants from whole-genome sequencing
Coutelier, M, Holtgrewe, M, Jäger, M, Flöttman, R, Mensah, MA, Spielmann, M, Krawitz, P, Horn, D, Beule, D, and Mundlos, S (2022).A4
European Journal of Human Genetics, 30(2):178--186.
Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages
Dwyer, DB, Buciuman, M, Ruef, A, Kambeitz, J, Sen Dong, M, Stinson, C, Kambeitz-Ilankovic, L, Degenhardt, F, Sanfelici, R, Antonucci, LA, Lalousis, PA, Wenzel, J, Urquijo-Castro, MF, Popovic, D, Oeztuerk, OF, Haas, SS, Weiske, J, Hauke, D, Neufang, S, Schmidt-Kraepelin, C, Ruhrmann, S, Penzel, N, Lichtenstein, T, Rosen, M, Chisholm, K, Riecher-Rössler, A, Egloff, L, Schmidt, A, Andreou, C, Hietala, J, Schirmer, T, Romer, G, Michel, C, Rössler, W, Maj, C, Borisov, O, Krawitz, PM, Falkai, P, Pantelis, C, Lencer, R, Bertolino, A, Borgwardt, S, Noethen, M, Brambilla, P, Schultze-Lutter, F, Meisenzahl, E, Wood, SJ, Davatzikos, C, Upthegrove, R, Salokangas, RKR, Koutsouleris, N, and Consortium, PRONIA (2022).
JAMA Psychiatry, 79(7):677--689.
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history
Hassanin, E, May, P, Aldisi, R, Spier, I, Forstner, AJ, Nöthen, MM, Aretz, S, Krawitz, P, Bobbili, DR, and Maj, C (2022).
Genetics in Medicine, 24(3):576-585.
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
Hassanin, E, Spier, I, Bobbili, DR, Aldisi, R, Klinkhammer, H, David, F, Dueñas, N, Hüneburg, R, Perne, C, Brunet, J, Capella, G, Nöthen, MM, Forstner, AJ, Mayr, A, Krawitz, P, May, P, Aretz, S, and Maj, C (2022).
medRxiv
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Hsieh, T, Bar-Haim, A, Moosa, S, Ehmke, N, Gripp, KW, Pantel, JT, Danyel, M, Mensah, MA, Horn, D, Rosnev, S, Fleischer, N, Bonini, G, Hustinx, A, Schmid, A, Knaus, A, Javanmardi, B, Klinkhammer, H, Lesmann, H, Sivalingam, S, Kamphans, T, Meiswinkel, W, Ebstein, F, Krüger, E, Küry, S, Bézieau, S, Schmidt, A, Peters, S, Engels, H, Mangold, E, Kreiß, M, Cremer, K, Perne, C, Betz, RC, Bender, T, Grundmann-Hauser, K, Haack, TB, Wagner, M, Brunet, T, Bentzen, HB, Averdunk, L, Coetzer, KC, Lyon, GJ, Spielmann, M, Schaaf, CP, Mundlos, S, Nöthen, MM, and Krawitz, PM (2022).
Nature Genetics.
The GA4GH Phenopacket schema defines a computable representation of clinical data
Jacobsen, JOB, Baudis, M, Baynam, GS, Beckmann, JS, Beltran, S, Buske, OJ, Callahan, TJ, Chute, CG, Courtot, M, Danis, D, Elemento, O, Essenwanger, A, Freimuth, RR, Gargano, MA, Groza, T, Hamosh, A, Harris, NL, Kaliyaperumal, R, Lloyd, KCK, Khalifa, A, Krawitz, PM, Köhler, S, Laraway, BJ, Lehväslaiho, H, Matalonga, L, McMurry, JA, Metke-Jimenez, A, Mungall, CJ, Munoz-Torres, MC, Ogishima, S, Papakonstantinou, A, Piscia, D, Pontikos, N, Queralt-Rosinach, N, Roos, M, Sass, J, Schofield, PN, Seelow, D, Siapos, A, Smedley, D, Smith, LD, Steinhaus, R, Sundaramurthi, JC, Swietlik, EM, Thun, S, Vasilevsky, NA, Wagner, AH, Warner, JL, Weiland, C, Axton, M, Babb, L, Boerkoel, CF, Chaudhari, BP, Chin, H, Dumontier, M, Gazzaz, N, Hansen, DP, Hochheiser, H, Kinsler, VA, Lochmüller, H, Mankovich, AR, Saunders, GI, Sergouniotis, PI, Thompson, R, Zankl, A, Haendel, MA, Robinson, PN, and Consortium, TGPM (2022).
Nature Biotechnology, 40(6):817--820.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Kampmeier, A, Leitão, E, Parenti, I, Beygo, J, Depienne, C, Bramswig, NC, Hsieh, T, Afenjar, A, Beck-Wödl, S, and Grasshoff, U (2022).
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL;
Haematologica, 107(8):1989-1993.
Knaus, A, Vergez, F, Garcia, C, Engels, H, Hundertmark, H, Ribes, D, Largeaud, L, Tavitian, S, Payrastre, B, Krawitz, P, Faguer, S, and Ribes, A (2022).
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany
Knaus, A, Vergez, F, Garcia, C, Engels, H, Hundertmark, H, Ribes, D, Largeaud, L, Tavitian, S, Payrastre, B, Krawitz, P, Faguer, S, and Ribes, A (2022).
Computational and Structural Biotechnology Journal, 20:2292-2296.
Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using AI
PONTIKOS, N, Woof, W, Krawitz, P, Arno, G, Hess, K, Daich Varela, M, Liefers, B, Guimaraes, T, Shah, M, Madhusudhan, S, Downes, SM, Balaskas, K, Mahroo, OAR, Holz, FG, Michaelides, M, and Webster, AR (2022).
Investigative Ophthalmology & Visual Science, 63(7):1161--1161.
Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning
Pontikos, N, Woof, W, Veturi, A, Javanmardi, B, Ibarra-Arellano, M, Hustinx, A, Moghul, I, Liu, Y, Heß, K, Georgiou, M, and others (2022).
Pre-print
Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders
Sümer, Hellmann, F, Hustinx, A, Hsieh, T, André, E, and Krawitz, P (2022).
Studies in Health Technology and Informatics
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease
Uellendahl-Werth, F, Maj, C, Borisov, O, Juzenas, S, Wacker, EM, Jørgensen, IF, Steiert, TA, Bej, S, Krawitz, P, Hoffmann, P, Schramm, C, Wolkenhauer, O, Banasik, K, Brunak, S, Schreiber, S, Karlsen, TH, Degenhardt, F, Nöthen, M, Franke, A, Folseraas, T, and Ellinghaus, D (2022).
Communications Biology, 5(1):80.
Genetics in parkinson’s disease: From better disease understanding to machine learning based precision medicine
Aborageh, M., Krawitz, P., & Fröhlich, H. (2022).
Frontiers in Molecular Medicine, 2, 933383.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M Savatt, Natasha L Rudy, Chiara De Luca, Paola Fortugno, Susan M White, Peter Krawitz, Anna CE Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain
Human Genetics and Genomics Advances
Next-generation phenotyping contributing to the identification of a non-coding deletion in KANSL1 causing Koolen-de Vries syndrome
Peter Krawitz, Fabian Brand, Claudia Perne
Human Mutation
FAIR Genomes: a metadata model and guidelines for reuse of NGS data
E Hassanin, R Aldisi, P May, P Krawitz, DR Bobbili, C Maj
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 83-84
Establishing the neurodevelopmental phenotype and genotype-phenotype correlations in individuals with a TRIP12 mutation
Mio Aerden, Anne-Sophie Denommé-Pichon, Saskia Koene, Amélie Piton, Eric Legius, Miel Theunis, Tzung-Chien Hsieh, Peter Krawitz, Mala Misra-Isrie, Sandra Whalen, Dagmar Wieczorek, Theresia Herget, François-Guillaume Debray, Nuria Brämswig, Vanesa López González, Guillaume Jouret, Berta Almoguera Castillo, Isis Atallah, Maria Kibaek, Lucia Bruno, Katrin Ounap, Fernando Santos-Simarro, Hilde Van Esch
Joint BeSHG/NVHG meeting 2022, Date: 2022/04/20-2022/04/22, Location: Bruges Meeting & Convention Centre
A national diagnostic framework for patients with ultra-rare disorders: molecular genetic findings using phenotypic and sequencing data
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).
This is a preprint; it has not been peer reviewed by a journal.
eP182: KBG syndrome: Prospective videoconferencing and use of AI-driven facial phenotyping
Gholson Lyon, Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Yana Kibalnyk, Anastassia Voronova, Tzung-Chien Hsieh, Peter Krawitz
Genetics in Medicine 24 (3), S112-S113
Expanding the Phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
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).
medRxiv