Noyes MD, Harvey WT, Porubsky D, Sulovari A, Li R, Rose NR, Audano PA, Munson KM, Lewis AP, Hoekzema K, Mantere T, Graves-Lindsay TA, Sanders AD, Goodwin S, Kramer M, Mokrab Y, Zody MC, Hoischen A, Korbel JO, McCombie WR, Eichler EE. (2022). Familial long-read sequencing increases yield of de novo mutations. Am J Hum Genet Apr 7;109(4):631-646.
Blog Archives
Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology
Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O’Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE; Genes to Mental Health Network. (2022). Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology. Am J Psychiatry Mar;179(3):189-203. Review.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O’Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. (2022). Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat Apr;43(4):461-470.
StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps
Vollger MR, Kerpedjiev P, Phillippy AM, Eichler EE. (2022). StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps. Bioinformatics Apr 1;38(7):2049–51.
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. (2022). A family study implicates GBE1 in the etiology of autism spectrum disorder. Hum Mutat Jan;43(1):16-29.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. (2022). Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain May 24;145(4):1299-1309.
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development
Johansson PA, Brattås PL, Douse CH, Hsieh P, Adami A, Pontis J, Grassi D, Garza R, Sozzi E, Cataldo R, Jönsson ME, Atacho DAM, Pircs K, Eren F, Sharma Y, Johansson J, Fiorenzano A, Parmar M, Fex M, Trono D, Eichler EE, Jakobsson J. (2022). A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development. Cell Stem Cell Jan 6;29(1):52-69.e8.
Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants
Lin J, Yang X, Kosters W, Xu T, Jia Y, Wang S, Zhu Q, Ryan M, Guo L, Zhang C, Lee C, Devine SE, Eichler EE, Ye K; Human Genome Structural Variation Consortium. (2022). Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants. Genomics Proteomics Bioinformatics Feb;20(1):205-218. Epub 2021 Jul 3.
