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2019

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

There are 15 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.

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.

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.

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.

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