Research

Publications

Master
Content

Cacherio P, Fuentes-Munoz V, Murray S, Dickinson M, Bucan M, Nutter L, Peterson K, Haseli Mashhadi H, Flenniken A, Morgan H, Westerberg H, Konopka T, Hsu C, Christiansen A, Lanza D, Beaudet A, Heaney J, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott C, Wardle-Jones, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams D, Seavitt J, Valentini-Tocchini G, Robert Braun, McKerlie C, Herauly Y, Hrabe de Angelis M, Mallon AM, Lloyd KC, Brown S, Parkinson H, Meehan T, Smedley D. Human and mouse essentiality screens as a resource for disease gene discovery. Nat Commun 2020; 11(1):655. PMID: 32005800

Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, Liu Z, Rao G, Plon SE, Yoshor D, Wheeler DA, Zoghbi HY, Klisch TJ. Molecular Profiling Predicts Meningioma Recurrence and Reveals Loss of DREAM Complex Repression in Aggressive Tumors. Proc Natl Acad Sci U S A.  2019 Oct 22;116(43):21715-21726.  PMID: 31591222

Yang Y, van der Klaauw AA, Zhu L, Cacciottolo TM, He Y, Stadler L, Wang C, Xu P, Saito K, Hinton Jr. A, Yan X, Keogh JM, Henning E, Banton MC, Hendricks AE, Bochukova EG, Mistry V, Lawler KL, Liao L, Xu J, O’Rahilly S, Tong Q, UK10K consortium, Barroso I, O’Malley BW, Farooqi IS,Xu Y. Steroid Receptor Coactivator-1 Modulates the Function of Pomc Neurons and Energy Homeostasis. Nature Communications, 2019 Apr 12;10(1):1718. doi: 10.1038/s41467-019-08737-6. PMID: 30979869. PMCID: PMC6461669

Robichaux MA, Potter VL, Zhang Z, He F, Liu J, Schmid  MF, Wensel TG. Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23562-23572. PMID: 31690665

Hai L, Szwarc MM, Lanza DG, Heaney JD, Lydon JP. Using CRISPR/Cas9 engineering to generate a mouse with a conditional allele for the promyeloctic leukemia zinc finger transcription factor. Genesis 2019; 57(3):e23281. PMC6422732

Lanza DG, Gaspero A, Zheng P, Lorenzo I, Liao L, Zheng P, Wang Y, Deng Y, Cheng C, Zhang C, Seavitt JR, DeMayo FJ, Xu J, Dickinson ME, Beaudet AL, and Heaney JD. Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles. BMC Biology 2018; 16(1): 69. PMC6011517

Szafranski P, Karolak JA, Lanza D, Gajecka M, Heaney J, Stankiewicz P. CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. Mamm Genome 2017; 28(7-8):275-282. PMC6011517.

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shaharour M, Lehmann A, Cogne B, Kury S, Besnard T, Isidor B, Bezieau S, HAzart I, Nagakura H, Immken LL, Littlejihn RO, Roeder E, EroEPINOMICS RES Consortium Autosomal Recessive working group, Caglayan SH, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson M, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewucz M. Biallelic loss-of-function variants in OTUD6B cause an intellectual disability syndrome associated with seizures, microcephaly, absent speech, hypotonia, prenatal onset growth retardation, and dysmorphic features. Am J Hum Genet 2017; 100(4): 676-88. PMC5384096