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

Results by year

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

Year Number of Results
1941 1
1946 6
1948 6
1949 2
1950 2
1951 1
1954 3
1955 6
1956 2
1957 2
1958 1
1959 3
1960 1
1962 3
1963 1
1964 2
1965 3
1966 3
1967 2
1968 3
1969 3
1970 2
1971 1
1972 2
1974 8
1975 9
1976 2
1977 5
1978 13
1979 27
1980 20
1981 19
1982 18
1983 21
1984 24
1985 25
1986 24
1987 28
1988 8
1989 24
1990 27
1991 24
1992 20
1993 14
1994 25
1995 23
1996 44
1997 38
1998 42
1999 31
2000 37
2001 35
2002 34
2003 40
2004 45
2005 45
2006 53
2007 52
2008 52
2009 68
2010 68
2011 56
2012 89
2013 95
2014 111
2015 110
2016 106
2017 130
2018 145
2019 152
2020 175
2021 195
2022 171
2023 182
2024 169
2025 6

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,746 results

Results by year

Filters applied: . Clear all
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: mcdonald mt. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Safe cholecystectomy multi-society practice guideline and state-of-the-art consensus conference on prevention of bile duct injury during cholecystectomy.
Brunt LM, Deziel DJ, Telem DA, Strasberg SM, Aggarwal R, Asbun H, Bonjer J, McDonald M, Alseidi A, Ujiki M, Riall TS, Hammill C, Moulton CA, Pucher PH, Parks RW, Ansari MT, Connor S, Dirks RC, Anderson B, Altieri MS, Tsamalaidze L, Stefanidis D; Prevention of Bile Duct Injury Consensus Work Group. Brunt LM, et al. Among authors: mcdonald m. Surg Endosc. 2020 Jul;34(7):2827-2855. doi: 10.1007/s00464-020-07568-7. Epub 2020 May 12. Surg Endosc. 2020. PMID: 32399938 Free article.
Histone serotonylation regulates ependymoma tumorigenesis.
Chen HC, He P, McDonald M, Williamson MR, Varadharajan S, Lozzi B, Woo J, Choi DJ, Sardar D, Huang-Hobbs E, Sun H, Ippagunta SM, Jain A, Rao G, Merchant TE, Ellison DW, Noebels JL, Bertrand KC, Mack SC, Deneen B. Chen HC, et al. Among authors: mcdonald m. Nature. 2024 Aug;632(8026):903-910. doi: 10.1038/s41586-024-07751-z. Epub 2024 Jul 31. Nature. 2024. PMID: 39085609
Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ. Lessel D, et al. Among authors: mcdonald m. Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. Nat Commun. 2020. PMID: 33199684 Free PMC article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: mcdonald m. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Integrated electrophysiological and genomic profiles of single cells reveal spiking tumor cells in human glioma.
Curry RN, Ma Q, McDonald MF, Ko Y, Srivastava S, Chin PS, He P, Lozzi B, Athukuri P, Jing J, Wang S, Harmanci AO, Arenkiel B, Jiang X, Deneen B, Rao G, Serin Harmanci A. Curry RN, et al. Among authors: mcdonald mf. Cancer Cell. 2024 Oct 14;42(10):1713-1728.e6. doi: 10.1016/j.ccell.2024.08.009. Epub 2024 Sep 5. Cancer Cell. 2024. PMID: 39241781
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: mcdonald m. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. Tolchin D, et al. Among authors: mcdonald mt. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442410 Free PMC article.
TP53 Sequencing and p53 Immunohistochemistry Predict Outcomes When Bevacizumab Is Added to Frontline Chemotherapy in Endometrial Cancer: An NRG Oncology/Gynecologic Oncology Group Study.
Thiel KW, Devor EJ, Filiaci VL, Mutch D, Moxley K, Alvarez Secord A, Tewari KS, McDonald ME, Mathews C, Cosgrove C, Dewdney S, Aghajanian C, Samuelson MI, Lankes HA, Soslow RA, Leslie KK. Thiel KW, et al. Among authors: mcdonald me. J Clin Oncol. 2022 Oct 1;40(28):3289-3300. doi: 10.1200/JCO.21.02506. Epub 2022 Jun 3. J Clin Oncol. 2022. PMID: 35658479 Free PMC article. Clinical Trial.
2,746 results