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Page 1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: nowak cb. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
Assisting the implementation of screening for type 1 diabetes by using artificial intelligence on publicly available data.
Teixeira PF, Battelino T, Carlsson A, Gudbjörnsdottir S, Hannelius U, von Herrath M, Knip M, Korsgren O, Elding Larsson H, Lindqvist A, Ludvigsson J, Lundgren M, Nowak C, Pettersson P, Pociot F, Sundberg F, Åkesson K, Lernmark Å, Forsander G. Teixeira PF, et al. Among authors: nowak c. Diabetologia. 2024 Jun;67(6):985-994. doi: 10.1007/s00125-024-06089-5. Epub 2024 Feb 14. Diabetologia. 2024. PMID: 38353727 Free PMC article. Review.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: nowak c. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Genetic swamping of the critically endangered Scottish wildcat was recent and accelerated by disease.
Howard-McCombe J, Jamieson A, Carmagnini A, Russo IM, Ghazali M, Campbell R, Driscoll C, Murphy WJ, Nowak C, O'Connor T, Tomsett L, Lyons LA, Muñoz-Fuentes V, Bruford MW, Kitchener AC, Larson G, Frantz L, Senn H, Lawson DJ, Beaumont MA. Howard-McCombe J, et al. Among authors: nowak c. Curr Biol. 2023 Nov 6;33(21):4761-4769.e5. doi: 10.1016/j.cub.2023.10.026. Curr Biol. 2023. PMID: 37935118 Free article.
Limited historical admixture between European wildcats and domestic cats.
Jamieson A, Carmagnini A, Howard-McCombe J, Doherty S, Hirons A, Dimopoulos E, Lin AT, Allen R, Anderson-Whymark H, Barnett R, Batey C, Beglane F, Bowden W, Bratten J, De Cupere B, Drew E, Foley NM, Fowler T, Fox A, Geigl EM, Gotfredsen AB, Grange T, Griffiths D, Groß D, Haruda A, Hjermind J, Knapp Z, Lebrasseur O, Librado P, Lyons LA, Mainland I, McDonnell C, Muñoz-Fuentes V, Nowak C, O'Connor T, Peters J, Russo IM, Ryan H, Sheridan A, Sinding MS, Skoglund P, Swali P, Symmons R, Thomas G, Trolle Jensen TZ, Kitchener AC, Senn H, Lawson D, Driscoll C, Murphy WJ, Beaumont M, Ottoni C, Sykes N, Larson G, Frantz L. Jamieson A, et al. Among authors: nowak c. Curr Biol. 2023 Nov 6;33(21):4751-4760.e14. doi: 10.1016/j.cub.2023.08.031. Curr Biol. 2023. PMID: 37935117 Free article.
C-peptide and metabolic outcomes in trials of disease modifying therapy in new-onset type 1 diabetes: an individual participant meta-analysis.
Taylor PN, Collins KS, Lam A, Karpen SR, Greeno B, Walker F, Lozano A, Atabakhsh E, Ahmed ST, Marinac M, Latres E, Senior PA, Rigby M, Gottlieb PA, Dayan CM; Trial Outcome Markers Initiative collaboration. Taylor PN, et al. Lancet Diabetes Endocrinol. 2023 Dec;11(12):915-925. doi: 10.1016/S2213-8587(23)00267-X. Epub 2023 Nov 3. Lancet Diabetes Endocrinol. 2023. PMID: 37931637 Free article.
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Reis LM, et al. Among authors: nowak cb. Genes (Basel). 2023 Oct 17;14(10):1948. doi: 10.3390/genes14101948. Genes (Basel). 2023. PMID: 37895297 Free PMC article.
Association of neighborhood-level sociodemographic factors with Direct-to-Consumer (DTC) distribution of COVID-19 rapid antigen tests in 5 US communities.
Herbert C, Shi Q, Baek J, Wang B, Kheterpal V, Nowak C, Suvarna T, Singh A, Hartin P, Durnam B, Schrader S, Harman E, Gerber B, Barton B, Zai A, Cohen-Wolkowiez M, Corbie-Smith G, Kibbe W, Marquez J, Hafer N, Broach J, Lin H, Heetderks W, McManus DD, Soni A. Herbert C, et al. Among authors: nowak c. BMC Public Health. 2023 Sep 22;23(1):1848. doi: 10.1186/s12889-023-16642-3. BMC Public Health. 2023. PMID: 37735647 Free PMC article.
458 results