UM1 HG008895/HG/NHGRI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2016	1
2017	5
2018	6
2019	10
2020	21
2021	12
2022	22
2023	13
2024	4

1

Contribution of autosomal rare and de novo variants to sex differences in autism.

Koko M, Kyle Satterstrom F; Autism Sequencing Consortium; APEX consortium; Warrier V, Martin H. Koko M, et al. medRxiv [Preprint]. 2024 Apr 16:2024.04.13.24305713. doi: 10.1101/2024.04.13.24305713. medRxiv. 2024. PMID: 38699304 Free PMC article. Preprint.

2

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Urpa L, Kurki MI, Rahikkala E, Hämäläinen E, Salomaa V, Suvisaari J, Keski-Filppula R, Rauhala M, Korpi-Heikkilä S, Komulainen-Ebrahim J, Helander H, Vieira P, Uusimaa J, Moilanen JS, Körkkö J, Singh T, Kuismin O, Pietiläinen O, Palotie A, Daly MJ. Urpa L, et al. Eur J Hum Genet. 2024 May;32(5):576-583. doi: 10.1038/s41431-024-01581-3. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467730 Free PMC article.

3

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Nyaga DM, Hildebrand MS, de Valles-Ibáñez G, Keenan NF, Ye Z, LaFlamme CW, Mefford HC, Bennett MF, Bahlo M, Sadleir LG. Nyaga DM, et al. Epilepsia Open. 2024 Apr;9(2):758-764. doi: 10.1002/epi4.12887. Epub 2024 Jan 5. Epilepsia Open. 2024. PMID: 38129960 Free PMC article.

4

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Licchetta L, Di Giorgi L, Santucci M, Taruffi L, Stipa C, Minardi R, Carelli V, Bisulli F. Licchetta L, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2311. doi: 10.1002/mgg3.2311. Epub 2023 Dec 13. Mol Genet Genomic Med. 2024. PMID: 38087948 Free PMC article. Review.

5

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J, Martiniano H, Marques AR, Santos JX, Asif M, Rasga C, Oliveira G, Vicente AM. Vilela J, et al. Biomedicines. 2023 Nov 4;11(11):2971. doi: 10.3390/biomedicines11112971. Biomedicines. 2023. PMID: 38001974 Free PMC article.

6

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

International League Against Epilepsy Consortium on Complex Epilepsies. International League Against Epilepsy Consortium on Complex Epilepsies. Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w. Epub 2023 Aug 31. Nat Genet. 2023. PMID: 37653029 Free PMC article.

7

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.

Babadi M, Fu JM, Lee SK, Smirnov AN, Gauthier LD, Walker M, Benjamin DI, Zhao X, Karczewski KJ, Wong I, Collins RL, Sanchis-Juan A, Brand H, Banks E, Talkowski ME. Babadi M, et al. Nat Genet. 2023 Sep;55(9):1589-1597. doi: 10.1038/s41588-023-01449-0. Epub 2023 Aug 21. Nat Genet. 2023. PMID: 37604963 Free PMC article.

8

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.

9

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.

Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004. Epub 2023 Jun 26. Am J Hum Genet. 2023. PMID: 37369202 Free PMC article.

10

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115. Genetics. 2023. PMID: 37348055

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