Ghorbani M, Moosa S, Siddig Z, Farhad R, Naeem H, Harvey WT, Mastrorosa FK, Munson KM, Mohamad Razali R, Aliyev E, Diboun I, Abouelhassan R, Tauro M, Hassan S, Mathew R, Al Hashmi M, Mathew LS, Wang K, Salhab AR, Vempalli FR, El Khouly A; Qatar Genome Program Research Consortium; Alazwani I, Tomei S, Fakhro KA, Satti A, Benini R, Rhie A, Eichler EE, Mokrab Y. (2025). Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery. Nat Genet May;57(5):1119-1131.
Blog Archives
Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants
. (2025). Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants. Autism Res May;18(5):909-921. Epub 2024 Jul 30.
The Somatic Mosaicism across Human Tissues Network
Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM; Somatic Mosaicism across Human Tissues Network. (2025). The Somatic Mosaicism across Human Tissues Network. Nature Jul;643(8070):47-59. Review.
Conservation of dichromatin organization along regional centromeres
Dubocanin D, Hartley GA, Sedeño Cortés AE, Mao Y, Hedouin S, Ranchalis J, Agarwal A, Logsdon GA, Munson KM, Real T, Mallory BJ, Eichler EE, Biggins S, O’Neill RJ, Stergachis AB. (2025). Conservation of dichromatin organization along regional centromeres. Cell Genom Apr 9;5(4):100819.
Integrated analysis of the complete sequence of a macaque genome
Zhang S, Xu N, Fu L, Yang X, Ma K, Li Y, Yang Z, Li Z, Feng Y, Jiang X, Han J, Hu R, Zhang L, Lian D, de Gennaro L, Paparella A, Ryabov F, Meng D, He Y, Wu D, Yang C, Mao Y, Bian X, Lu Y, Antonacci F, Ventura M, Shepelev VA, Miga KH, Alexandrov IA, Logsdon GA, Phillippy AM, Su B, Zhang G, Eichler EE, Lu Q, Shi Y, Sun Q, Mao Y. (2025). Integrated analysis of the complete sequence of a macaque genome. Nature Apr;640(8059):714-721.
MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins
Haberman M, Kamyshinsky R, Reznik N, Yeshaya N, Khmelnitsky L, Plender EG, Eichler EE, Fass D. (2025). MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins. Proc Natl Acad Sci U S A Mar 11;122(10):e2419717122.
Structural polymorphism and diversity of human segmental duplications
Jeong H, Dishuck PC, Yoo D, Harvey WT, Munson KM, Lewis AP, Kordosky J, Garcia GH; Human Genome Structural Variation Consortium (HGSVC); Yilmaz F, Hallast P, Lee C, Pastinen T, Eichler EE. (2025). Structural polymorphism and diversity of human segmental duplications. Nat Genet Feb;57(2):390–401.
Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome
Rea HM, Webb SJ, Kurtz-Nelson EC, Hudac CM, Bernier RA, Miles C, Earl R, Whiting A, Eayrs C, Johansson M, Wang T, Eichler EE, Neuhaus E. (2025). Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome. Front Neurosci Jan 7;18:1485499.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. (2025). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. Ann Neurol Jan;97:76–89.
