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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2012 2
2013 2
2014 2
2015 3
2016 1
2017 1
2018 3
2019 7
2020 6
2021 8
2022 12
2023 18
2024 8

Text availability

Article attribute

Article type

Publication date

Search Results

59 results

Results by year

Filters applied: . Clear all
Page 1
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: schmidt r. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
A Primer on Gene Editing.
Cushman-Vokoun A, Schmidt RJ, Hiemenz MC, Fung M, Zhang BM, Bradshaw G, Gandhi M, Yao J, Yohe S, Beckman A, Grody WW, Giannikopoulos P. Cushman-Vokoun A, et al. Among authors: schmidt rj. Arch Pathol Lab Med. 2023 Aug 22. doi: 10.5858/arpa.2022-0410-CP. Online ahead of print. Arch Pathol Lab Med. 2023. PMID: 37603682 Free article.
Contamination Assessment for Cancer Next-Generation Sequencing.
Li YY, Schmidt RJ, Manning DK, Jia Y, Dong F. Li YY, et al. Among authors: schmidt rj. Arch Pathol Lab Med. 2022 Jan 2;146(2):227-232. doi: 10.5858/arpa.2020-0679-OA. Arch Pathol Lab Med. 2022. PMID: 34015814 Free article.
Prostate magnetic resonance imaging: challenges of implementation.
Loch R, Fowler K, Schmidt R, Ippolito J, Siegel C, Narra V. Loch R, et al. Among authors: schmidt r. Curr Probl Diagn Radiol. 2015 Jan-Feb;44(1):26-37. doi: 10.1067/j.cpradiol.2014.05.009. Epub 2014 Jul 26. Curr Probl Diagn Radiol. 2015. PMID: 25073742 Review.
A genetic history of the pre-contact Caribbean.
Fernandes DM, Sirak KA, Ringbauer H, Sedig J, Rohland N, Cheronet O, Mah M, Mallick S, Olalde I, Culleton BJ, Adamski N, Bernardos R, Bravo G, Broomandkhoshbacht N, Callan K, Candilio F, Demetz L, Carlson KSD, Eccles L, Freilich S, George RJ, Lawson AM, Mandl K, Marzaioli F, McCool WC, Oppenheimer J, Özdogan KT, Schattke C, Schmidt R, Stewardson K, Terrasi F, Zalzala F, Antúnez CA, Canosa EV, Colten R, Cucina A, Genchi F, Kraan C, La Pastina F, Lucci M, Maggiolo MV, Marcheco-Teruel B, Maria CT, Martínez C, París I, Pateman M, Simms TM, Sivoli CG, Vilar M, Kennett DJ, Keegan WF, Coppa A, Lipson M, Pinhasi R, Reich D. Fernandes DM, et al. Among authors: schmidt r. Nature. 2021 Feb;590(7844):103-110. doi: 10.1038/s41586-020-03053-2. Epub 2020 Dec 23. Nature. 2021. PMID: 33361817 Free PMC article.
Origins and genetic legacy of prehistoric dogs.
Bergström A, Frantz L, Schmidt R, Ersmark E, Lebrasseur O, Girdland-Flink L, Lin AT, Storå J, Sjögren KG, Anthony D, Antipina E, Amiri S, Bar-Oz G, Bazaliiskii VI, Bulatović J, Brown D, Carmagnini A, Davy T, Fedorov S, Fiore I, Fulton D, Germonpré M, Haile J, Irving-Pease EK, Jamieson A, Janssens L, Kirillova I, Horwitz LK, Kuzmanovic-Cvetković J, Kuzmin Y, Losey RJ, Dizdar DL, Mashkour M, Novak M, Onar V, Orton D, Pasarić M, Radivojević M, Rajković D, Roberts B, Ryan H, Sablin M, Shidlovskiy F, Stojanović I, Tagliacozzo A, Trantalidou K, Ullén I, Villaluenga A, Wapnish P, Dobney K, Götherström A, Linderholm A, Dalén L, Pinhasi R, Larson G, Skoglund P. Bergström A, et al. Among authors: schmidt r. Science. 2020 Oct 30;370(6516):557-564. doi: 10.1126/science.aba9572. Epub 2020 Oct 29. Science. 2020. PMID: 33122379 Free PMC article.
59 results