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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: coe bp. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Cingöz S, Soydemir D, Öner TÖ, Karaca E, Özden B, Kurul SH, Bayram E; University of Washington Center for Mendelian Genomics; Coe BP, Nickerson DA, Eichler EE. Cingöz S, et al. Among authors: coe bp. Eur J Med Genet. 2022 Jun;65(6):104497. doi: 10.1016/j.ejmg.2022.104497. Epub 2022 Apr 14. Eur J Med Genet. 2022. PMID: 35430327 Free PMC article.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ. Fanjul-Fernández M, et al. Among authors: coe bp. Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21. Hum Mutat. 2022. PMID: 34633740 Free PMC article.
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA; SPARK Consortium; Zody MC, Eichler EE. Wilfert AB, et al. Among authors: coe bp. Nat Genet. 2021 Aug;53(8):1125-1134. doi: 10.1038/s41588-021-00899-8. Epub 2021 Jul 26. Nat Genet. 2021. PMID: 34312540 Free PMC article.
DYRK1A Syndrome.
van Bon BWM, Coe BP, de Vries BBA, Eichler EE. van Bon BWM, et al. Among authors: coe bp. 2015 Dec 17 [updated 2021 Mar 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Dec 17 [updated 2021 Mar 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26677511 Free Books & Documents. Review.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: coe bp. Nat Commun. 2020 Oct 21;11(1):5398. doi: 10.1038/s41467-020-19289-5. Nat Commun. 2020. PMID: 33087701 Free PMC article.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Among authors: coe bp. Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Nat Commun. 2020. PMID: 33004838 Free PMC article.
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. Li YR, et al. Among authors: coe bp. Nat Commun. 2020 Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1. Nat Commun. 2020. PMID: 31937769 Free PMC article.
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KH, Gupta N, Gabriel S, Eichler EE, Berrios C, Chakravarti A. Tilghman JM, et al. Among authors: coe bp. N Engl J Med. 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594. N Engl J Med. 2019. PMID: 30970187 Free PMC article.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Maggiolini FAM, et al. Among authors: coe bp. PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30917130 Free PMC article.
87 results