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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: schwarz m. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
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: schwarz m. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Proenkephalin A 119-159 (penKid) and mortality in stable patients at high cardiovascular risk.
Rau M, Kurt B, Hartmann O, Lobo de Sá FD, Schwarz M, Thiele K, Hartmann NK, Spiesshoefer J, Möllmann J, Hohl M, Selejan SR, van der Vorst EPC, Dahl E, Marx N, Kahles F, Lehrke M. Rau M, et al. Among authors: schwarz m. Clin Kidney J. 2024 Sep 19;17(9):sfae246. doi: 10.1093/ckj/sfae246. eCollection 2024 Sep. Clin Kidney J. 2024. PMID: 39790480 Free PMC article.
HER2 and HER3 expression during neoadjuvant treatment of HER2-negative early breast cancer: potential for biomarker-driven sequencing of T-DXd and HER3-DXd.
Singer CF, Jahn SW, Hlauschek D, Heber UM, Mang-Manger C, Egle D, Balic M, Pichler A, Pfeiler G, Kacerovsky-Strobl S, Suppan C, Ritter M, Petru E, Greil R, Bago-Horvath Z, Deutschmann C, Steger GG, Seifert M, Fitzal F, Bartsch R, Santhanagopal A, Machacek-Link J, Sellami D, Schwarz M, Fesl C, Sölkner L, Esker S, Filipits M, Gnant M; Austrian Breast and Colorectal Cancer Study Group. Singer CF, et al. Among authors: schwarz m. Cancer Commun (Lond). 2025 Jan 6. doi: 10.1002/cac2.12657. Online ahead of print. Cancer Commun (Lond). 2025. PMID: 39757921 No abstract available.
Laboratory Studies on the Influence of Hydrogen on Titan-like Photochemistry.
Ugelow MS, Wieman ST, Schwarz MCR, Da Poian V, Stern JC, Trainer MG. Ugelow MS, et al. Among authors: schwarz mcr. ACS Earth Space Chem. 2024 Dec 5;8(12):2362-2371. doi: 10.1021/acsearthspacechem.4c00102. eCollection 2024 Dec 19. ACS Earth Space Chem. 2024. PMID: 39720223 Free PMC article.
2,492 results