Recent Manton Center Publications
Below are some of the most recent publications from The Manton Center Team and Associates.
Please be sure to also see the Manton Center's Publication Archive for other great reads!
- A framework for individualized splice-switching oligonucleotide therapy. Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, Dash Z, Cornelissen L, Donado C, Faour KNW, Bush LW, Suslovitch V, Lentucci C, Park PJ, Lee EA, Patterson A, Philippakis AA, Margus B, Berde CB, Yu TW. Nature. 2023 Jul 12. doi: 10.1038/s41586-023-06277-0.
- X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Soto Barros J, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, Genetti CA, Brownstein CA, Carpenter TO. Bone. 2023 Jul;172:116763. doi: 10.1016/j.bone.2023.116763. Epub 2023 Apr 13.
- Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. D'Gama AM, Agrawal PB. J Perinatol. 2023 Jul;43(7):963-967. doi: 10.1038/s41372-023-01630-7.
- Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba , Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix , Michael J Lyons 12, Carlo Marcelis 21, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B A de Vries, Cynthia J Curry. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14.
- Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010.
- An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. Frances O Flanagan, Alexander M Holtz, Sara O Vargas, Casie A Genetti, Klaus Schmitz-Abe, Alicia Casey, John C Kennedy, Benjamin A Raby, Mary P Mullen, Martha P Fishman, Pankaj B Agrawal. NPJ Genom Med. 2023 Mar 6;8(1):7. doi: 10.1038/s41525-023-00350-3.
- Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Margaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, Richard Smith, Shira Rockowitz, Emma Deaso, Alan H Beggs, Pankaj B Agrawal, David C Glahn, Joseph Gonzalez-Heydrich, Catherine A Brownstein. Genes (Basel). 2023 Mar 23;14(4):779. doi: 10.3390/genes14040779.
- A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Boxun Zhao, Jill A Madden, Jasmine Lin, Gerard T Berry, Monica H Wojcik, Xuefang Zhao, Harrison Brand, Michael Talkowski, Eunjung Alice Lee, Pankaj B Agrawal. Eur J Hum Genet. 2022 Sep;30(9):1083-1087. doi: 10.1038/s41431-022-01137-3. Epub 2022 Jun 3.