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

Year Number of Results
1948 1
1949 1
1952 1
1954 2
1955 1
1957 2
1964 2
1966 1
1968 1
1969 1
1970 1
1971 1
1972 1
1976 3
1982 2
1983 1
1984 2
1986 1
1988 2
1989 1
1990 2
1992 1
1993 1
1994 4
1996 9
1997 3
1998 2
1999 3
2000 3
2001 3
2002 3
2003 4
2004 3
2005 6
2006 7
2007 9
2008 3
2009 3
2010 5
2011 7
2012 8
2013 4
2015 1
2016 2
2017 4
2018 5
2019 3
2020 8
2021 22
2022 7
2023 4
2024 1
2025 4
2026 0

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162 results

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Page 1
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: bachman k. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. Ernst ME, et al. Among authors: bachman k. Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26. Epilepsia. 2021. PMID: 34041744 Free PMC article.
The consensus coding sequences of human breast and colorectal cancers.
Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. Sjöblom T, et al. Among authors: bachman ke. Science. 2006 Oct 13;314(5797):268-74. doi: 10.1126/science.1133427. Epub 2006 Sep 7. Science. 2006. PMID: 16959974
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Roth… See abstract for full author list ➔ Asadollahi R, et al. Among authors: bachman kk. Nat Genet. 2025 Nov;57(11):2691-2704. doi: 10.1038/s41588-025-02361-5. Epub 2025 Oct 22. Nat Genet. 2025. PMID: 41125872 Free PMC article.
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Peng X, Jia X, Wang H, Chen J, Zhang X, Tan S, Duan X, Qiu C, Hu M, Hou H, Parenti I, Kuechler A, Kaiser FJ, Renck A, Caylor R, Skinner C, Peeden J, Cogne B, Isidor B, Mercier S, Nicolas G, Guerrot AM, Faletra F, Musante L, Cohen L, Bergant G, Čuturilo G, Peterlin B, Seeley A, Bachman K, Martinez-Agosto JA, van Ravenswaaij-Arts C, Bos D, Kim KH, Bartolomaeus T, Schmederer Z, Abou Jamra R, Aref-Eshghi E, Zhao W, Zou Y, Hu Z, Pan Q, Li F, Chen G, Li J, Hu Z, Xia K, Tan J, Guo H. Peng X, et al. Among authors: bachman k. J Clin Invest. 2025 Sep 18;135(22):e191729. doi: 10.1172/JCI191729. eCollection 2025 Nov 17. J Clin Invest. 2025. PMID: 40966122 Free PMC article.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: bachman k. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Monitoring for Recurrence After Esophagectomy.
Chang C, Linden PA, Jiang B, Sarode A, Bachman K, Towe CW, Argote-Greene L, Worrell SG. Chang C, et al. Among authors: bachman k. Ann Thorac Surg. 2022 Jul;114(1):211-217. doi: 10.1016/j.athoracsur.2021.10.021. Epub 2021 Nov 16. Ann Thorac Surg. 2022. PMID: 34793765
Comprehensive genomic dependency landscape of a human colon cancer organoid.
Khalili S, Mohseninia A, Liu C, Banister CE, Heine P, Khazan M, Morrison SE, Gokare P, Cowley GS, Weir BA, Pocalyko D, Bachman KE, Buckhaults PJ. Khalili S, et al. Among authors: bachman ke. Commun Biol. 2025 Mar 14;8(1):436. doi: 10.1038/s42003-025-07822-5. Commun Biol. 2025. PMID: 40082551 Free PMC article.
Discovery of Gut-Restricted PRMT5 Inhibitors to Intercept Colorectal Cancer in Patients with Genetic Loss of Tumor Suppressor Adenomatous Polyposis Coli.
Hulpia F, Schepens W, Lepri S, Nicolaï J, Jiang Z, Boj SF, Bush TL, Carvalho MA, Chen F, Chu G, Clancy KW, Etwebi Z, Everaerts M, Fan Y, Fernandez Candelaria FO, Francis A, Hixon MS, Jardi F, Jin S, Larin EM, Last S, Leenaerts JE, Li S, Liddane AG, Lutter FH, Lv D, Mattson B, Milligan CM, Patrick AN, Patwardhan GA, Perez-Benito L, Pieters S, Renders E, Retzbach E, Smith-Monroy C, Silva J, Silva M, Sterckx H, Ten Hag G, Thäte C, Van Brandt S, Verissimo CS, Verniest G, Vesely E, Vetrano I, Vinken P, Wang Y, Wong V, Yao X, Yang J, Zijlmans R, Bachman KE, Pocalyko D, Jimenez JM, Gaffney D, Thuring JW. Hulpia F, et al. Among authors: bachman ke. J Med Chem. 2025 Nov 27;68(22):23825-23866. doi: 10.1021/acs.jmedchem.5c00830. Epub 2025 Aug 26. J Med Chem. 2025. PMID: 40857667
162 results