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2007 1
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120 results

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Page 1
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice.
Miller BR, Gonzaga-Jauregui C, Brigatti KW, de Jong J, Breese RS, Ko SY, Puffenberger EG, Van Hout C, Young M, Luna VM, Staples J, First MB, Gregoire HJ, Dwork AJ, Pefanis E, McCarthy S, Brydges S, Rojas J, Ye B, Stahl E, Di Gioia SA, Hen R, Elwood K, Rosoklija G, Li D, Mellis S, Carey D, Croll SD, Overton JD, Macdonald LE, Economides AN, Shuldiner AR, Chuhma N, Rayport S, Amin N, Kushner SA, Alessandri-Haber N, Markx S, Strauss KA. Miller BR, et al. Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2404754122. doi: 10.1073/pnas.2404754122. Epub 2025 Apr 14. Proc Natl Acad Sci U S A. 2025. PMID: 40228124
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.
Baldovino S, Sciascia S, Carta C, Salvatore M, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, la Paz EMC, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Pagava K, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Baldovino S, et al. Front Public Health. 2025 Feb 26;13:1510818. doi: 10.3389/fpubh.2025.1510818. eCollection 2025. Front Public Health. 2025. PMID: 40078755 Free PMC article.
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.
Popejoy AB, Ritter DI, Azzariti D, Berg JS, Bulkley JE, Cho M, Gonzaga-Jauregui C, Klein TE, Martschenko DO, Oni-Orisan A, Ramos EM, Rehm HL, Riggs ER, Wright MW, Yudell M, Plon SE, Morales J. Popejoy AB, et al. Am J Hum Genet. 2025 Feb 6;112(2):215-223. doi: 10.1016/j.ajhg.2024.12.009. Epub 2025 Jan 9. Am J Hum Genet. 2025. PMID: 39793579 Review.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta … See abstract for full author list ➔ Delgado-Vega AM, et al. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals.
Metpally RP, Vishweswaraiah S, Krishnamurthy S, Saiyed N, Stahl RC, Golden A, Denisenko A, Staples J, Gonzaga-Jauregui C, Carey DJ, Bechara F, Jemec GBE, Williams H, Radhakrishna U; Geisinger-Regeneron DiscovEHR collaboration. Metpally RP, et al. Dermatology. 2024;240(5-6):739-749. doi: 10.1159/000540359. Epub 2024 Oct 11. Dermatology. 2024. PMID: 39396498
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson ZB, Storz SHR, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124. Genome Res. 2024. PMID: 39358015 Free PMC article.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124. PMID: 38496498 Free PMC article. Updated. Preprint.
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