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
1866 1
1871 1
1876 1
1892 7
1893 3
1894 1
1897 1
1930 1
1947 1
1951 1
1952 1
1960 1
1961 18
1962 13
1963 2
1964 14
1965 1
1966 12
1967 2
1968 7
1969 1
1970 3
1971 4
1972 1
1973 2
1975 3
1976 2
1978 5
1979 2
1984 1
1985 3
1986 1
1987 4
1988 2
1989 4
1990 1
1991 4
1992 8
1993 10
1994 10
1995 5
1996 6
1997 6
1998 3
1999 4
2000 3
2001 5
2003 3
2004 2
2005 5
2006 3
2007 4
2008 10
2009 4
2010 5
2011 10
2012 8
2013 3
2014 8
2015 3
2016 10
2017 5
2018 21
2019 17
2020 21
2021 19
2022 21
2023 26
2024 17
2025 17

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

404 results

Results by year

Filters applied: . Clear all
Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: richmond c. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: richmond c. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Schmid Metaphyseal Chondrodysplasia.
Richmond CM, Savarirayan R. Richmond CM, et al. 2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 31633898 Free Books & Documents. Review.
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: richmond cm. Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. Online ahead of print. Brain. 2025. PMID: 40494548
Activity-driven myelin sheath growth is mediated by mGluR5.
Braaker PN, Mi X, Soong D, Bin JM, Marshall-Phelps K, Bradley S, Benito-Kwiecinski S, Meng J, Arafa D, Richmond C, Keatinge M, Yu G, Almeida RG, Lyons DA. Braaker PN, et al. Among authors: richmond c. Nat Neurosci. 2025 Jun;28(6):1213-1225. doi: 10.1038/s41593-025-01956-9. Epub 2025 May 14. Nat Neurosci. 2025. PMID: 40369366 Free PMC article.
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: richmond cm. medRxiv [Preprint]. 2025 Apr 14:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. medRxiv. 2025. Update in: Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. PMID: 39574879 Free PMC article. Updated. Preprint.
Medicine and misogyny.
Richmond C. Richmond C. CMAJ. 1993 Oct 15;149(8):1149-50. CMAJ. 1993. PMID: 8221453 Free PMC article. No abstract available.
Long-term Safety and Efficacy of Budesonide Oral Suspension for Eosinophilic Esophagitis: A 4-Year, Phase 3, Open-Label Study.
Dellon ES, Katzka DA, Mukkada VA, Collins MH, Falk GW, Richmond CA, Terreri B, Thakur M, Boules M, Goodwin B, Hirano I. Dellon ES, et al. Among authors: richmond ca. Clin Gastroenterol Hepatol. 2025 Nov;23(12):2155-2166.e5. doi: 10.1016/j.cgh.2024.12.024. Epub 2025 Feb 13. Clin Gastroenterol Hepatol. 2025. PMID: 39954913 Free article. Clinical Trial.
Move Over Caco-2 Cells: Human-Induced Organoids Meet Gut-on-a-Chip.
Richmond CA, Breault DT. Richmond CA, et al. Cell Mol Gastroenterol Hepatol. 2018 Feb 15;5(4):634-635. doi: 10.1016/j.jcmgh.2018.01.016. eCollection 2018. Cell Mol Gastroenterol Hepatol. 2018. PMID: 29713662 Free PMC article. No abstract available.
404 results