U01 HG007530/HG/NHGRI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2013	1
2014	1
2015	3
2017	4
2018	5
2019	9
2020	6
2021	14
2022	4
2023	9
2024	2

1

Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics.

Martelli F, Lin J, Mele S, Imlach W, Kanca O, Barlow CK, Paril J, Schittenhelm RB, Christodoulou J, Bellen HJ, Piper MDW, Johnson TK. Martelli F, et al. Cell Rep. 2024 Mar 26;43(3):113861. doi: 10.1016/j.celrep.2024.113861. Epub 2024 Feb 27. Cell Rep. 2024. PMID: 38416643 Free PMC article.

2

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Nadimpalli Kobren S, et al. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158. bioRxiv. 2024. PMID: 38405764 Free PMC article. Preprint.

3

GCN2 mediates access to stored amino acids for somatic maintenance during Drosophila ageing.

Johnstone JN, Mirth CK, Johnson TK, Schittenhelm RB, Piper MDW. Johnstone JN, et al. bioRxiv [Preprint]. 2023 Nov 14:2023.11.14.566972. doi: 10.1101/2023.11.14.566972. bioRxiv. 2023. PMID: 38014136 Free PMC article. Preprint.

4

Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index.

Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J. Scheller IF, et al. Am J Hum Genet. 2023 Dec 7;110(12):2056-2067. doi: 10.1016/j.ajhg.2023.10.014. Epub 2023 Nov 24. Am J Hum Genet. 2023. PMID: 38006880

5

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

Mueller AA, Sasaki T, Keegan JW, Nguyen JP, Griffith A, Horisberger AM, Licata T, Fieg E, Cao Y, Elahee M, Marks KE, Simmons DP, Briere LC, Cobban LA, Pallais JC, High FA, Walker MA, Linnoila JJ, Sparks JA, Holers VM, Costenbader KH; Undiagnosed Diseases Network; Sweetser DA, Krier JB, Loscalzo J, Lederer JA, Rao DA. Mueller AA, et al. J Clin Invest. 2023 Dec 15;133(24):e169619. doi: 10.1172/JCI169619. J Clin Invest. 2023. PMID: 37874643 Free PMC article. No abstract available.

6

Simulation of undiagnosed patients with novel genetic conditions.

Alsentzer E, Finlayson SG, Li MM; Undiagnosed Diseases Network; Kobren SN, Kohane IS. Alsentzer E, et al. Nat Commun. 2023 Oct 12;14(1):6403. doi: 10.1038/s41467-023-41980-6. Nat Commun. 2023. PMID: 37828001 Free PMC article.

7

A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4.

Gümüşderelioğlu S, Resch L, Brock T; Undiagnosed Diseases Network; Luxton GWG, Cope H, Tan QK, Hopkins C, Starr DA. Gümüşderelioğlu S, et al. Dis Model Mech. 2023 Aug 1;16(8):dmm050076. doi: 10.1242/dmm.050076. Epub 2023 Aug 29. Dis Model Mech. 2023. PMID: 37565267 Free PMC article.

8

Improved detection of aberrant splicing using the Intron Jaccard Index.

Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J. Scheller IF, et al. medRxiv [Preprint]. 2023 Apr 3:2023.03.31.23287997. doi: 10.1101/2023.03.31.23287997. medRxiv. 2023. PMID: 37066374 Free PMC article. Updated. Preprint.

9

Participation in a national diagnostic research study: assessing the patient experience.

Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network; McCray AT. Rosenfeld LE, et al. Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5. Orphanet J Rare Dis. 2023. PMID: 37032333 Free PMC article.

10

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4.

Gümüşderelioğlu S, Resch L, Brock T; Undiagnosed Diseases Network; Luxton GWG, Tan QK, Hopkins C, Starr DA. Gümüşderelioğlu S, et al. bioRxiv [Preprint]. 2023 Jan 8:2023.01.07.523106. doi: 10.1101/2023.01.07.523106. bioRxiv. 2023. PMID: 36789438 Free PMC article. Updated. Preprint.

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