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

2,478 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.
Lrp1 facilitates infection of neurons by Jamestown Canyon virus.
Frey ZD, Price DA, Connors KA, Rush RE, Brown G, Sterling CE, Fatma F, Schwarz MM, Ganaie S, Cui X, Wills ZP, Leung DW, Amarasinghe GK, Hartman AL. Frey ZD, et al. Among authors: schwarz mm. bioRxiv [Preprint]. 2024 Nov 6:2024.11.06.622176. doi: 10.1101/2024.11.06.622176. bioRxiv. 2024. PMID: 39574651 Free PMC article. Preprint.
Atmospheric new particle formation identifier using longitudinal global particle number size distribution data.
Kecorius S, Madueño L, Lovric M, Racic N, Schwarz M, Cyrys J, Casquero-Vera JA, Alados-Arboledas L, Conil S, Sciare J, Ondracek J, Hallar AG, Gómez-Moreno FJ, Ellul R, Kristensson A, Sorribas M, Kalivitis N, Mihalopoulos N, Peters A, Gini M, Eleftheriadis K, Vratolis S, Jeongeun K, Birmili W, Bergmans B, Nikolova N, Dinoi A, Contini D, Marinoni A, Alastuey A, Petäjä T, Rodriguez S, Picard D, Brem B, Priestman M, Green DC, Beddows DCS, Harrison RM, O'Dowd C, Ceburnis D, Hyvärinen A, Henzing B, Crumeyrolle S, Putaud JP, Laj P, Weinhold K, Plauškaitė K, Byčenkienė S. Kecorius S, et al. Among authors: schwarz m. Sci Data. 2024 Nov 16;11(1):1239. doi: 10.1038/s41597-024-04079-1. Sci Data. 2024. PMID: 39550387 Free PMC article.
α-Tocopherol Long-Chain Metabolite α-T-13'-COOH Exhibits Biphasic Effects on Cell Viability, Induces ROS-Dependent DNA Damage, and Modulates Redox Status in Murine RAW264.7 Macrophages.
Liao S, Börmel L, Müller AK, Gottschalk L, Pritsch N, Preisner LZ, Samokhina O, Schwarz M, Kipp AP, Schlörmann W, Glei M, Schubert M, Schmölz L, Wallert M, Lorkowski S. Liao S, et al. Among authors: schwarz m. Mol Nutr Food Res. 2024 Nov 16:e2400455. doi: 10.1002/mnfr.202400455. Online ahead of print. Mol Nutr Food Res. 2024. PMID: 39548913
[Housing Situation of People with Severe Mental Illnesses].
Lamp N, Breilmann J, Becker T, Allgöwer A, Kilian R, Gühne U, Riedel-Heller SG, Hasan A, Falkai P, Ajayi K, Brieger P, Frasch K, Heres S, Jäger M, Küthmann A, Putzhammer A, Schneeweiß B, Schwarz M, Kösters M. Lamp N, et al. Among authors: schwarz m. Psychiatr Prax. 2024 Nov 8. doi: 10.1055/a-2419-7254. Online ahead of print. Psychiatr Prax. 2024. PMID: 39515373 German.
2,478 results