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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2012 4
2013 2
2015 1
2016 1
2018 1
2019 5
2020 6
2021 11
2022 7
2023 4
2024 1

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38 results

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Page 1
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: wood jc. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: wood jc. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Miyake CY, et al. Among authors: wood j. Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36473599 Free PMC article. Review.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Among authors: wood jc. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. Am J Hum Genet. 2023. PMID: 37633279 Free PMC article.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
COVID-19 Exposure and Family Impact Scales for Adolescents and Young Adults.
Schwartz LA, Lewis AM, Alderfer MA, Vega G, Barakat LP, King-Dowling S, Psihogios AM, Canter KS, Crosby L, Arasteh K, Enlow P, Hildenbrand AK, Kassam-Adams N, Pai A, Phan TL, Price J, Schultz CL, Sood E, Wood J, Kazak A. Schwartz LA, et al. Among authors: wood j. J Pediatr Psychol. 2022 Jun 7;47(6):631-640. doi: 10.1093/jpepsy/jsac036. J Pediatr Psychol. 2022. PMID: 35459946 Free PMC article.
Digestive Manifestations in Patients Hospitalized With Coronavirus Disease 2019.
Elmunzer BJ, Spitzer RL, Foster LD, Merchant AA, Howard EF, Patel VA, West MK, Qayed E, Nustas R, Zakaria A, Piper MS, Taylor JR, Jaza L, Forbes N, Chau M, Lara LF, Papachristou GI, Volk ML, Hilson LG, Zhou S, Kushnir VM, Lenyo AM, McLeod CG, Amin S, Kuftinec GN, Yadav D, Fox C, Kolb JM, Pawa S, Pawa R, Canakis A, Huang C, Jamil LH, Aneese AM, Glamour BK, Smith ZL, Hanley KA, Wood J, Patel HK, Shah JN, Agarunov E, Sethi A, Fogel EL, McNulty G, Haseeb A, Trieu JA, Dixon RE, Yang JY, Mendelsohn RB, Calo D, Aroniadis OC, LaComb JF, Scheiman JM, Sauer BG, Dang DT, Piraka CR, Shah ED, Pohl H, Tierney WM, Mitchell S, Condon A, Lenhart A, Dua KS, Kanagala VS, Kamal A, Singh VK, Pinto-Sanchez MI, Hutchinson JM, Kwon RS, Korsnes SJ, Singh H, Solati Z, Willingham FF, Yachimski PS, Conwell DL, Mosier E, Azab M, Patel A, Buxbaum J, Wani S, Chak A, Hosmer AE, Keswani RN, DiMaio CJ, Bronze MS, Muthusamy R, Canto MI, Gjeorgjievski VM, Imam Z, Odish F, Edhi AI, Orosey M, Tiwari A, Patwardhan S, Brown NG, Patel AA, Ordiah CO, Sloan IP, Cruz L, Koza CL, Okafor U, Hollander T, Furey N, Reykhart O, Zbib NH, Damianos JA, Esteban J, Hajidiacos N, Saul M, Mays M, Anderson G, Wood K, Mathews L, Di… See abstract for full author list ➔ Elmunzer BJ, et al. Among authors: wood j. Clin Gastroenterol Hepatol. 2021 Jul;19(7):1355-1365.e4. doi: 10.1016/j.cgh.2020.09.041. Epub 2020 Oct 1. Clin Gastroenterol Hepatol. 2021. PMID: 33010411 Free PMC article.
38 results