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

Year Number of Results
1946 1
1951 1
1954 3
1955 1
1957 1
1959 2
1960 1
1961 3
1962 3
1963 2
1966 2
1970 1
1973 1
1974 1
1975 2
1976 1
1978 1
1979 1
1981 1
1987 1
1994 1
2001 1
2005 1
2008 1
2010 2
2011 1
2013 2
2014 3
2015 4
2016 5
2017 5
2018 2
2019 2
2020 3
2021 4
2022 4
2023 2
2024 0

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65 results

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Page 1
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Raca G, et al. Among authors: lowther c. Genet Med. 2023 Feb;25(2):100316. doi: 10.1016/j.gim.2022.09.017. Epub 2022 Dec 12. Genet Med. 2023. PMID: 36507974 Free article. No abstract available.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME. Mohajeri K, et al. Among authors: lowther c. Am J Hum Genet. 2022 Nov 3;109(11):2049-2067. doi: 10.1016/j.ajhg.2022.09.015. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283406 Free PMC article.
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Among authors: lowther c. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
Effects of a refined evidence-based toolkit and mentored implementation on medication reconciliation at 18 hospitals: results of the MARQUIS2 study.
Schnipper JL, Reyes Nieva H, Mallouk M, Mixon A, Rennke S, Chu E, Mueller S, Smith GRR Jr, Williams MV, Wetterneck TB, Stein J, Dalal A, Labonville S, Sridharan A, Stolldorf DP, Orav EJ, Levin B, Gresham M, Yoon C, Goldstein J, Platt S, Nyenpan CT, Howell E, Kripalani S; MARQUIS2 Site Leaders; MARQUIS2 Study Group. Schnipper JL, et al. BMJ Qual Saf. 2022 Apr;31(4):278-286. doi: 10.1136/bmjqs-2020-012709. Epub 2021 Apr 29. BMJ Qual Saf. 2022. PMID: 33927025 Free PMC article.
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J; Human Genome Structural Variation Consortium; Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME. Zhao X, et al. Among authors: lowther c. Am J Hum Genet. 2021 May 6;108(5):919-928. doi: 10.1016/j.ajhg.2021.03.014. Epub 2021 Mar 30. Am J Hum Genet. 2021. PMID: 33789087 Free PMC article.
Author Correction: A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Among authors: lowther c. Nature. 2021 Feb;590(7846):E55. doi: 10.1038/s41586-020-03176-6. Nature. 2021. PMID: 33536627 Free PMC article. No abstract available.
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Among authors: lowther c. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, … See abstract for full author list ➔ Cleynen I, et al. Among authors: lowther c. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 Free PMC article.
65 results