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
1947 1
1951 1
1953 1
1954 2
1955 2
1956 1
1957 1
1958 3
1959 3
1960 8
1961 5
1962 3
1963 7
1964 3
1965 3
1968 3
1969 1
1971 2
1974 1
1976 3
1978 6
1979 4
1980 9
1981 11
1982 11
1983 15
1984 10
1985 13
1986 8
1987 17
1988 21
1989 14
1990 20
1991 19
1992 21
1993 15
1994 33
1995 17
1996 24
1997 19
1998 20
1999 25
2000 33
2001 37
2002 35
2003 24
2004 32
2005 34
2006 26
2007 18
2008 33
2009 31
2010 32
2011 46
2012 39
2013 35
2014 37
2015 37
2016 35
2017 31
2018 43
2019 53
2020 42
2021 50
2022 51
2023 51
2024 58
2025 39

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,253 results

Results by year

Filters applied: . Clear all
Page 1
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: schaefer e. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Hypomethylating agents plus venetoclax compared with intensive induction chemotherapy regimens in molecularly defined secondary AML.
Shimony S, Bewersdorf JP, Shallis RM, Liu Y, Schaefer EJ, Zeidan AM, Goldberg AD, Stein EM, Marcucci G, Lindsley RC, Chen EC, Ramos Perez J, Stein A, DeAngelo DJ, Neuberg DS, Stone RM, Ball B, Stahl M. Shimony S, et al. Among authors: schaefer ej. Leukemia. 2024 Apr;38(4):762-768. doi: 10.1038/s41375-024-02175-0. Epub 2024 Feb 20. Leukemia. 2024. PMID: 38378841
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: schaefer e. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Xenosterolemia: emerging molecular and clinical insights.
Kane J, Schaefer E, Malloy M. Kane J, et al. Among authors: schaefer e. Curr Opin Lipidol. 2017 Dec;28(6):518-519. doi: 10.1097/MOL.0000000000000463. Curr Opin Lipidol. 2017. PMID: 29095365 No abstract available.
Intensive induction chemotherapy vs hypomethylating agents in combination with venetoclax in NPM1-mutant AML.
Bewersdorf JP, Shimony S, Shallis RM, Liu Y, Berton G, Schaefer EJ, Zeidan AM, Goldberg AD, Stein EM, Marcucci G, Bystrom RP, Lindsley RC, Chen EC, Ramos Perez J, Stein A, Pullarkat V, Aldoss I, DeAngelo DJ, Neuberg DS, Stone RM, Garciaz S, Ball B, Stahl M. Bewersdorf JP, et al. Among authors: schaefer ej. Blood Adv. 2024 Sep 24;8(18):4845-4855. doi: 10.1182/bloodadvances.2024012858. Blood Adv. 2024. PMID: 38941537 Free PMC article.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: schaefer e. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M. Armand T, et al. Among authors: schaefer e. Neurochirurgie. 2019 Nov;65(5):196-201. doi: 10.1016/j.neuchi.2019.10.003. Epub 2019 Oct 9. Neurochirurgie. 2019. PMID: 31605683 Review.
Pediatric Fabry disease.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Ries M, et al. Among authors: schaefer e. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15. Pediatrics. 2005. PMID: 15713906
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Isfahani SA, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko … See abstract for full author list ➔ Cif L, et al. Among authors: schaefer e. ArXiv [Preprint]. 2025 Feb 10:arXiv:2502.06320v1. ArXiv. 2025. Update in: Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. PMID: 39990802 Free PMC article. Updated. Preprint.
Lipoproteins, nutrition, aging, and atherosclerosis.
Schaefer EJ, Lichtenstein AH, Lamon-Fava S, McNamara JR, Ordovas JM. Schaefer EJ, et al. Am J Clin Nutr. 1995 Mar;61(3 Suppl):726S-740S. doi: 10.1093/ajcn/61.3.726S. Am J Clin Nutr. 1995. PMID: 7879744 Review.
1,253 results