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PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Johnston HR, Chopra P, Wingo TS, Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome; Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. Johnston HR, et al. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1923-E1932. doi: 10.1073/pnas.1618065114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223510 Free PMC article.
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Trevino CE, Holleman AM, Corbitt H, Maslen CL, Rosser TC, Cutler DJ, Johnston HR, Rambo-Martin BL, Oberoi J, Dooley KJ, Capone GT, Reeves RH, Cordell HJ, Keavney BD, Agopian AJ, Goldmuntz E, Gruber PJ, O'Brien JE Jr, Bittel DC, Wadhwa L, Cua CL, Moskowitz IP, Mulle JG, Epstein MP, Sherman SL, Zwick ME. Trevino CE, et al. Among authors: johnston hr. Sci Rep. 2020 Oct 22;10(1):18051. doi: 10.1038/s41598-020-74650-4. Sci Rep. 2020. PMID: 33093519 Free PMC article.
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Trevino CE, Holleman AM, Corbitt H, Maslen CL, Rosser TC, Cutler DJ, Johnston HR, Rambo-Martin BL, Oberoi J, Dooley KJ, Capone GT, Reeves RH, Cordell HJ, Keavney BD, Agopian AJ, Goldmuntz E, Gruber PJ, O'Brien JE Jr, Bittel DC, Wadhwa L, Cua CL, Moskowitz IP, Mulle JG, Epstein MP, Sherman SL, Zwick ME. Trevino CE, et al. Among authors: johnston hr. Sci Rep. 2021 Jul 20;11(1):15164. doi: 10.1038/s41598-021-94021-x. Sci Rep. 2021. PMID: 34285246 Free PMC article. No abstract available.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, … See abstract for full author list ➔ Cleynen I, et al. Among authors: johnston hr. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 Free PMC article.
40 results