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

Year Number of Results
1975 1
1976 3
1977 1
1978 2
1979 1
1980 1
1981 1
1982 1
1983 3
1984 1
1985 2
1986 2
1987 13
1988 9
1989 12
1990 11
1991 13
1992 11
1993 15
1994 9
1995 14
1996 4
1997 4
1998 4
1999 3
2000 5
2001 10
2002 4
2003 9
2004 9
2005 7
2006 11
2007 10
2008 9
2009 13
2010 14
2011 16
2012 18
2013 26
2014 27
2015 26
2016 26
2017 35
2018 37
2019 41
2020 36
2021 62
2022 50
2023 37
2024 28
2025 24

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652 results

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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: holden s. Am J Hum Genet. 2025 Nov 6;112(11):2814. doi: 10.1016/j.ajhg.2025.10.010. Epub 2025 Oct 18. Am J Hum Genet. 2025. PMID: 41110445 No abstract available.
CRISPR activation for SCN2A-related neurodevelopmental disorders.
Tamura S, Nelson AD, Spratt PWE, Hamada EC, Zhou X, Kyoung H, Li Z, Arnould C, Barskyi V, Krupkin B, Young K, Zhao J, Holden SS, Sahagun A, Keeshen CM, Lu C, Ben-Shalom R, Taloma SE, Schamiloglu S, Li YC, Min L, Jenkins PM, Pan JQ, Paz JT, Sanders SJ, Matharu N, Ahituv N, Bender KJ. Tamura S, et al. Among authors: holden ss. Nature. 2025 Oct;646(8086):983-991. doi: 10.1038/s41586-025-09522-w. Epub 2025 Sep 17. Nature. 2025. PMID: 40963013 Free PMC article.
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M, Halachev M, Parry D, Campos JL, D'Souza EN, Barnett C, Wilkie AOM, Barnicoat A, Patel CV, Sukarova-Angelovska E, Girisha KM, Firth HV, Prescott K, Wilson LC, McEntagart M, Davidson R, Lynch SA, Joss S, Holden ST, Lam WK, Sisodiya SM, Green AJ, Poke G, Whiffin N, FitzPatrick DR, Meynert A. Ansari M, et al. Among authors: holden st. Hum Mutat. 2025 Jan 30;2025:4711663. doi: 10.1155/humu/4711663. eCollection 2025. Hum Mutat. 2025. PMID: 40677927 Free PMC article.
The future of Parkinson's care: a need to expand access.
Aslam S, Sharrief AZ, Holden SK, Fullard M, Holtrop JS, Maw AM, Amara AW. Aslam S, et al. Among authors: holden sk. Front Neurol. 2025 Jun 19;16:1622283. doi: 10.3389/fneur.2025.1622283. eCollection 2025. Front Neurol. 2025. PMID: 40612798 Free PMC article.
652 results