Recent publications
2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Lyon, GJ, Vedaie, M, BeshBayat, A, Knaus, A, Juul, AW, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, JA, Josifova, D, Larsen, LHG, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, DK, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, PM, Helbig, I, Kini, U, and Møller, RS (2019).
eim, 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).
Genetics in Medicine:1.
Next generation sequencing analysis in early onset dementia patients
Bonvicini, C, Scassellati, C, Benussi, L, Di Maria, E, Maj, C, Ciani, M, Fostinelli, S, Mega, A, Bocchetta, M, Lanzi, G, and others (2019).
Journal of Alzheimer's disease, 67(1):243–256.
Polygenic Modeling of Muscle Fibers Composition
Borisov, O, Maj, C, Kulemin, N, Semenova, E, Krawitz, P, Ahmetov, I, and Generozov, E (2019).
In: International Symposium on Computer Science in Sport, pp. 151–158, Springer, Cham.
Identification of a miRNAs signature associated with exposure to stress early in life and enhanced vulnerability for schizophrenia: New insights for the key role of miR-125b-1-3p in neurodevelopmental processes
Cattane, N, Mora, C, Lopizzo, N, Borsini, A, Maj, C, Pedrini, L, Rossi, R, Riva, MA, Pariante, CM, and Cattaneo, A (2019).
Schizophrenia research, 205:63–75.
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes
Ciani, M, Bonvicini, C, Scassellati, C, Carrara, M, Maj, C, Fostinelli, S, Binetti, G, Ghidoni, R, and Benussi, L (2019).
International Journal of Molecular Sciences, 20(16):3903.
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
Danyel, M, Suk, EK, Raile, V, Gellermann, J, Knaus, A, and Horn, D (2019).
BMC Medical Genomics, 12(1):6.
The A-allele of the FTO Gene rs9939609 Polymorphism Is Associated With Decreased Proportion of Slow Oxidative Muscle Fibers and Over-represented in Heavier Athletes
Guilherme, JPL, Egorova, ES, Semenova, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Ospanova, EA, Pavlenko, AV, and others (2019).
The Journal of Strength & Conditioning Research, 33(3):691-700.
Identifying facial phenotypes of genetic disorders using deep learning.
Gurovich, Y, Hanani, Y, Bar, O, Nadav, G, Fleischer, N, Gelbman, D, Basel-Salmon, L, Krawitz, PM, Kamphausen, SB, Zenker, M, Bird, LM, and Gripp, KW (2019).
Nature medicine, 25(1):60–64.
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation
Hoechsmann, B, Murakami, Y, Osato, M, Knaus, A, Kawamoto, M, Inoue, N, Hirata, T, Murata, S, Anliker, M, Eggerman, T, Jaeger, M, Floettmann, R, Hoellein, A, Murase, S, Ueda, Y, Nishimura, J, Kanakura, Y, Kohara, N, Schrezenmeier, H, Krawitz, PM, and Kinoshita, T (2019).
Journal of Clinical Investigation, In-Press Preview.
PEDIA: prioritization of exome data by image analysis
Hsieh, T, Mensah, MA, Pantel, JT, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, HB, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, HD, Devriendt, K, Wilson, S, Douzgou, S, Dukic, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, KW, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, GJ, Mangold, E, Reina, PM, Carrascal, AM, Mitter, D, Herrador, LM, Nadav, G, Nöthen, M, Orrico, A, Ott, C, Park, K, Peterlin, B, Pölsler, L, Raas-Rothschild, A, Randolph, L, Revencu, N, Fagerberg, CR, Robinson, PN, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P, Spielmann, M, Suk, E, Sznajer, Y, Thiel, CT, Thiel, G, Verloes, A, Vrecar, I, Wahl, D, Weber, I, Winter, K, Wisniewska, M, Wollnik, B, Yeung, MW, Zhao, M, Zhu, N, Zschocke, J, Mundlos, S, Horn, D, and Krawitz, PM (2019).
Genetics in Medicine.
Whole-exome sequencing and large-scale re-sequencing in nonsyndromic cleft lip with/without cleft palate identify novel susceptibility genes
Ishorst, N, Henschel, L, Thieme, F, Drichel, D, Sivalingam, S, Mehrem, S, Fechtner, A, Fazaal, J, Welzenbach, J, Heimbach, A, and others (2019).
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 1289–1290, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus, A, Kortüm, F, Kleefstra, T, Stray-Pedersen, A, Đukić, D, Murakami, Y, Gerstner, T, van Bokhoven, H, Iqbal, Z, Horn, D, Kinoshita, T, Hempel, M, and Krawitz, PM (2019).
The American Journal of Human Genetics, 154(2):62-70.
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Krenn, M, Knaus, A, Westphal, DS, Wortmann, SB, Polster, T, Woermann, FG, Karenfort, M, Mayatepek, E, Meitinger, T, Wagner, M, and Distelmaier, F (2019).
Annals of Clinical and Translational Neurology, 6(5):968-973.
Integration of machine learning methods to dissect genetically imputed transcriptomic profiles in Alzheimer’s Disease.
Maj, C, Azevedo, T, Giansanti, V, Borisov, O, Dimitri, GM, Spasov, S, Lio, P, and Merelli, I (2019).
Frontiers in Genetics, 10:726.
Cross-phenotype transcriptome-wide association study reveals shared susceptibility genes between schizophrenia and inflammatory bowel disease in gut-brain axis related tissues
Maj, C, Borisov, O, Weiss, A, Mucha, S, Bej, S, Uellendahl-Werth, F, Wolfien, M, Karlsen, T, Franke, A, Hoffmann, P, and others (2019).
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 1774–1775, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.
Association between Inflammatory and Metabolic markers and the Polygenic Risk Score of Schizophrenia in First Episode Psychosis
Maj, C, Tosato, S, Ruggeri, M, Gennarelli, M, and Bocchio-Chiavetto, L (2019).
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 301–301, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.
Correlations between immune and metabolic serum markers and schizophrenia/bipolar disorder polygenic risk score in first-episode psychosis
Maj, C, Tosato, S, Zanardini, R, Lasalvia, A, Favaro, A, Leuci, E, De Girolamo, G, Ruggeri, M, Gennarelli, M, and Bocchio-Chiavetto, L (2019).
Early intervention in psychiatry.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Marbach, F, Rustad, CF, Riess, A, Đukić, D, Hsieh, T, Jobani, I, Prescott, T, Bevot, A, Erger, F, Houge, G, Redfors, M, Altmueller, J, Stokowy, T, Gilissen, C, Kubisch, C, Scarano, E, Mazzanti, L, Fiskerstrand, T, Krawitz, PM, Lessel, D, and Netzer, C (2019).
The American Journal of Human Genetics.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Murakami, Y, Nguyen, TTM, Baratang, N, Raju, PK, Knaus, A, Ellard, S, Jones, G, Lace, B, Rousseau, J, Ajeawung, NF, Kamei, A, Minase, G, Akasaka, M, Araya, N, Koshimizu, E, van den Ende, J, Erger, F, Altmüller, J, Krumina, Z, Strautmanis, J, Inashkina, I, Stavusis, J, El-Gharbawy, A, Sebastian, J, Puri, RD, Kulshrestha, S, Verma, IC, Maier, EM, Haack, TB, Israni, A, Baptista, J, Gunning, A, Rosenfeld, JA, Liu, P, Joosten, M, Rocha, ME, Hashem, MO, Aldhalaan, HM, Alkuraya, FS, Miyatake, S, Matsumoto, N, Krawitz, PM, Rossignol, E, Kinoshita, T, and Campeau, PM (2019).
The American Journal of Human Genetics.
A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players:
Pickering, C, Suraci, B, Semenova, EA, Boulygina, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Leońska-Duniec, A, Pająk, B, Chycki, J, Moska, W, Lulińska-Kuklik, E, Dornowski, M, Maszczyk, A, Bradley, B, Kana-ah, A, Cięszczyk, P, Generozov, EV, and Ahmetov, II (2019).
Journal of Strength and Conditioning Research:1.
UBR5 is a novel E3 ubiquitin ligase involved in skeletal muscle hypertrophy and recovery from atrophy
Seaborne, RA, Hughes, DC, Turner, DC, Owens, DJ, Baehr, LM, Gorski, P, Semenova, EA, Borisov, OV, Larin, AK, Popov, DV, Generozov, EV, Sutherland, H, Ahmetov, II, Jarvis, JC, Bodine, SC, and Sharples, AP (2019).
The Journal of Physiology, 597(14):3727-3749.
The Variability of DNA Structure and Muscle-Fiber Composition
Semenova, EA, Khabibova, SA, Borisov, OV, Generozov, EV, and Ahmetov, II (2019).
Human Physiology, 45(2):225–232.
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder
Thompson, MD, Knaus, AA, Barshop, BA, Caliebe, A, Muhle, H, Mai Nguyen, TT, Baratang, NV, Kinoshita, T, Percy, ME, Campeau, PM, Murakami, Y, Cole, DE, Krawitz, PN, and Mabry, CC (2019).
European Journal of Medical Genetics:103822.