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5,286 results

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Page 1
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study; Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK. Ceroni F, et al. Among authors: stewart h, stewart a. Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20. Hum Genet. 2019. PMID: 29464339
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Birth weight and head circumference for 22-29 weeks gestation neonates from an international cohort.
Fenton TR, Alshaikh B, Kusuda S, Helenius K, Modi N, Norman M, Lui K, Lehtonen L, Battin M, Klinger G, Vento M, Lastrucci V, Gagliardi L, Adams M, Marba STM, Isayama T, Hakansson S, Bassler D, Shah PS; International Network for Evaluation of Outcomes (iNeo) of Neonates Investigators. Fenton TR, et al. Arch Dis Child Fetal Neonatal Ed. 2025 Jan 6:fetalneonatal-2024-327845. doi: 10.1136/archdischild-2024-327845. Online ahead of print. Arch Dis Child Fetal Neonatal Ed. 2025. PMID: 39762001
Land Use Change Consistently Reduces α- But Not β- and γ-Diversity of Bees.
Tsang TPN, De Santis AAA, Armas-Quiñonez G, Ascher JS, Ávila-Gómez ES, Báldi A, Ballare KM, Balzan MV, Banaszak-Cibicka W, Bänsch S, Basset Y, Bates AJ, Baumann JM, Beal-Neves M, Bennett A, Bezerra ADM, Blochtein B, Bommarco R, Brosi B, Burkle LA, Carvalheiro LG, Castellanos I, Cely-Santos M, Cohen H, Coulibaly D, Cunningham SA, Cusser S, Dajoz I, Delaney DA, Del-Val E, Egerer M, Eichhorn MP, Enríquez E, Entling MH, Escobedo-Kenefic N, Ferreira PMA, Fitch G, Forrest JRK, Fournier V, Fowler R, Freitas BM, Gaines-Day HR, Geslin B, Ghazoul J, Glaum P, Gonzalez-Andujar JL, González-Chaves A, Grab H, Gratton C, Guenat S, Gutiérrez-Chacón C, Hall MA, Hanley ME, Hass A, Hennig EI, Hermy M, Hipólito J, Holzschuh A, Hopfenmüller S, Hung KJ, Hylander K, Izquierdo J, Jamieson MA, Jauker B, Javorek S, Jha S, Klatt BK, Kleijn D, Klein AM, Kovács-Hostyánszki A, Krauss J, Kuhlmann M, Landaverde-González P, Latty T, Leong M, Lerman SB, Liu Y, Machado ACP, Main A, Mallinger R, Mandelik Y, Marques BF, Matteson K, McCune F, Meng LZ, Metzger JP, Montoya-Pfeiffer PM, Morales C, Morandin L, Morrison J, Mudri-Stojnić S, Nalinrachatakan P, Norfolk O, Otieno M, Park MG, Philpott SM, Pisanty G, Plascencia … See abstract for full author list ➔ Tsang TPN, et al. Among authors: stewart ab. Glob Chang Biol. 2025 Jan;31(1):e70006. doi: 10.1111/gcb.70006. Glob Chang Biol. 2025. PMID: 39754379
5,286 results