Publications

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Journal Article
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PCelestino, de Lima ARamalho, Ferreira BMerfort, Coban-Akdemir Z, White J, Shears D, Thomson FRobert, Douglas SLouise, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RSayuri, Kok F, Martelli LR, Filho VOdone, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, V Sutton R, Carvalho CMB. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 ;3(1):100074.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Akdemir ZCoban, Hui J, Yeung WLan, K Y Wong B, Ortega L, Bekheirnia MReza, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikaşifoğlu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JPaulo, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, V Sutton R, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.