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2019

This folder holds the following references to publications, sorted by year and author.

There are 23 references in this bibliography folder.

Bayat, 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).
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Genetics in Medicine:1.

Bonvicini, C, Scassellati, C, Benussi, L, Di Maria, E, Maj, C, Ciani, M, Fostinelli, S, Mega, A, Bocchetta, M, Lanzi, G, and others (2019).
Next generation sequencing analysis in early onset dementia patients
Journal of Alzheimer's disease, 67(1):243–256.

Borisov, O, Maj, C, Kulemin, N, Semenova, E, Krawitz, P, Ahmetov, I, and Generozov, E (2019).
Polygenic Modeling of Muscle Fibers Composition
In: International Symposium on Computer Science in Sport, pp. 151–158, Springer, Cham.

Cattane, N, Mora, C, Lopizzo, N, Borsini, A, Maj, C, Pedrini, L, Rossi, R, Riva, MA, Pariante, CM, and Cattaneo, A (2019).
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
Schizophrenia research, 205:63–75.

Ciani, M, Bonvicini, C, Scassellati, C, Carrara, M, Maj, C, Fostinelli, S, Binetti, G, Ghidoni, R, and Benussi, L (2019).
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes
International Journal of Molecular Sciences, 20(16):3903.

Danyel, M, Suk, EK, Raile, V, Gellermann, J, Knaus, A, and Horn, D (2019).
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
BMC Medical Genomics, 12(1):6.

Guilherme, JPL, Egorova, ES, Semenova, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Ospanova, EA, Pavlenko, AV, and others (2019).
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
The Journal of Strength & Conditioning Research, 33(3):691-700.

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).
Identifying facial phenotypes of genetic disorders using deep learning.
Nature medicine, 25(1):60–64.

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).
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation
Journal of Clinical Investigation, In-Press Preview.

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).
PEDIA: prioritization of exome data by image analysis
Genetics in Medicine.

Ishorst, N, Henschel, L, Thieme, F, Drichel, D, Sivalingam, S, Mehrem, S, Fechtner, A, Fazaal, J, Welzenbach, J, Heimbach, A, and others (2019).
Whole-exome sequencing and large-scale re-sequencing in nonsyndromic cleft lip with/without cleft palate identify novel susceptibility genes
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 1289–1290, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.

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).
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
The American Journal of Human Genetics, 154(2):62-70.

Krenn, M, Knaus, A, Westphal, DS, Wortmann, SB, Polster, T, Woermann, FG, Karenfort, M, Mayatepek, E, Meitinger, T, Wagner, M, and Distelmaier, F (2019).
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Annals of Clinical and Translational Neurology, 6(5):968-973.

Maj, C, Azevedo, T, Giansanti, V, Borisov, O, Dimitri, GM, Spasov, S, Lio, P, and Merelli, I (2019).
Integration of machine learning methods to dissect genetically imputed transcriptomic profiles in Alzheimer’s Disease.
Frontiers in Genetics, 10:726.

Maj, C, Borisov, O, Weiss, A, Mucha, S, Bej, S, Uellendahl-Werth, F, Wolfien, M, Karlsen, T, Franke, A, Hoffmann, P, and others (2019).
Cross-phenotype transcriptome-wide association study reveals shared susceptibility genes between schizophrenia and inflammatory bowel disease in gut-brain axis related tissues
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 1774–1775, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.

Maj, C, Tosato, S, Ruggeri, M, Gennarelli, M, and Bocchio-Chiavetto, L (2019).
Association between Inflammatory and Metabolic markers and the Polygenic Risk Score of Schizophrenia in First Episode Psychosis
In: EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, pp. 301–301, NATURE PUBLISHING GROUP MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND.

Maj, C, Tosato, S, Zanardini, R, Lasalvia, A, Favaro, A, Leuci, E, De Girolamo, G, Ruggeri, M, Gennarelli, M, and Bocchio-Chiavetto, L (2019).
Correlations between immune and metabolic serum markers and schizophrenia/bipolar disorder polygenic risk score in first-episode psychosis
Early intervention in psychiatry.

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 Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
The American Journal of Human Genetics.

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).
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
The American Journal of Human Genetics.

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).
A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players:
Journal of Strength and Conditioning Research:1.

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).
UBR5 is a novel E3 ubiquitin ligase involved in skeletal muscle hypertrophy and recovery from atrophy
The Journal of Physiology, 597(14):3727-3749.

Semenova, EA, Khabibova, SA, Borisov, OV, Generozov, EV, and Ahmetov, II (2019).
The Variability of DNA Structure and Muscle-Fiber Composition
Human Physiology, 45(2):225–232.

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).
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
European Journal of Medical Genetics:103822.

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