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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

101 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: love mi. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594
Modeling read counts for CNV detection in exome sequencing data.
Love MI, Myšičková A, Sun R, Kalscheuer V, Vingron M, Haas SA. Love MI, et al. Stat Appl Genet Mol Biol. 2011 Nov 8;10(1):Article 52. doi: 10.2202/1544-6115.1732. Stat Appl Genet Mol Biol. 2011. PMID: 23089826 Free PMC article.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: love mi. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits.
Raulerson CK, Ko A, Kidd JC, Currin KW, Brotman SM, Cannon ME, Wu Y, Spracklen CN, Jackson AU, Stringham HM, Welch RP, Fuchsberger C, Locke AE, Narisu N, Lusis AJ, Civelek M, Furey TS, Kuusisto J, Collins FS, Boehnke M, Scott LJ, Lin DY, Love MI, Laakso M, Pajukanta P, Mohlke KL. Raulerson CK, et al. Among authors: love mi. Am J Hum Genet. 2019 Oct 3;105(4):773-787. doi: 10.1016/j.ajhg.2019.09.001. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564431 Free PMC article.
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.
Aygün N, Elwell AL, Liang D, Lafferty MJ, Cheek KE, Courtney KP, Mory J, Hadden-Ford E, Krupa O, de la Torre-Ubieta L, Geschwind DH, Love MI, Stein JL. Aygün N, et al. Among authors: love mi. Am J Hum Genet. 2021 Sep 2;108(9):1647-1668. doi: 10.1016/j.ajhg.2021.07.011. Epub 2021 Aug 19. Am J Hum Genet. 2021. PMID: 34416157 Free PMC article.
101 results