Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,523 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Treatment with gemcitabine/cisplatin and durvalumab for advanced biliary tract cancer - real-world data from a multicenter German patient population.
Gerhardt F, Müller C, Venerito M, Chater J, Mohr R, Egerer M, Lindig U, Schindler A, Ebel S, Fischer J, Schwarz M, Gehring S, Berg T, van Bömmel F. Gerhardt F, et al. Among authors: schwarz m. J Cancer Res Clin Oncol. 2025 Jun 18;151(6):191. doi: 10.1007/s00432-025-06239-1. J Cancer Res Clin Oncol. 2025. PMID: 40533571 Free PMC article.
Minimal residual ascites 3 months after TIPS implantation implicates worse clinical outcomes in patients with cirrhosis.
Mauz JB, Hartl L, Kornfehl A, Schütte SL, Hemetsberger P, Müllner-Bucsics T, Jachs M, Tiede A, Rieland H, Schwarz M, Dominik N, Kramer G, Meyer B, Reider L, Trauner M, Wedemeyer H, Mandorfer M, Maasoumy B, Reiberger T, Tergast TL. Mauz JB, et al. Among authors: schwarz m. JHEP Rep. 2025 Jan 23;7(7):101335. doi: 10.1016/j.jhepr.2025.101335. eCollection 2025 Jul. JHEP Rep. 2025. PMID: 40524697 Free PMC article.
The Vasopressin Biomarker Copeptin is Linked to Systemic Inflammation and Refines Prognostication in Decompensated Cirrhosis.
Hartl L, Hintersteininger M, Simbrunner B, Jachs M, Hofer BS, Bauer DJM, Dominik N, Schwarz M, Balcar L, Kramer G, Kerbert AJC, Coenraad MJ, Thevenot T, Moreau R, Trebicka J, Clària J, Marculescu R, Trauner M, Mandorfer M, Reiberger T. Hartl L, et al. Among authors: schwarz m. Clin Gastroenterol Hepatol. 2025 Jun 2:S1542-3565(25)00461-6. doi: 10.1016/j.cgh.2025.04.030. Online ahead of print. Clin Gastroenterol Hepatol. 2025. PMID: 40467020 Free article.
2,523 results