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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study; Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Turnpenny PD, et al. Among authors: roberts ae. Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343942 Free PMC article.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study; Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Turnpenny PD, et al. Among authors: roberts ae. Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. Am J Hum Genet. 2018. PMID: 30526864 Free PMC article. No abstract available.
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.
Mullen MP, Ivy DD, Varghese NP, Winant AJ, Cortes-Santiago N, Vargas SO, Porres D, Maschietto N, Critser PJ, Hirsch R, Avitabile CM, Hopper RK, Frank BS, Coleman RD, Agrawal PB, Madden JA, Roberts AE, Collins SL, Raj JU, Austin ED, Chung WK, Abman SH. Mullen MP, et al. Among authors: roberts ae. J Pediatr. 2024 Nov 26;278:114422. doi: 10.1016/j.jpeds.2024.114422. Online ahead of print. J Pediatr. 2024. PMID: 39603521
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: roberts ae. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery.
Watkins WS, Hernandez EJ, Miller T, Blue N, Zimmerman R, Griffiths E, Frise E, Bernstein D, Boskovski M, Brueckner M, Chung W, Gaynor JW, Gelb B, Goldmuntz E, Gruber P, Newburger J, Roberts A, Morton S, Mayer J, Seidman C, Seidman J, Shen Y, Wagner M, Yost HJ, Yandell M, Tristani-Firouzi M. Watkins WS, et al. medRxiv [Preprint]. 2024 Nov 15:2024.05.03.24306784. doi: 10.1101/2024.05.03.24306784. medRxiv. 2024. PMID: 38746151 Free PMC article. Preprint.
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
Liu D, Mervis CB, Levin MD, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Osgood S, Freeman JA, Raja N, Merla G, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: roberts ae. medRxiv [Preprint]. 2024 Sep 18:2024.09.17.24313555. doi: 10.1101/2024.09.17.24313555. medRxiv. 2024. PMID: 39371121 Free PMC article. Preprint.
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure.
Vandewouw MM, Norris-Brilliant A, Rahman A, Assimopoulos S, Morton SU, Kushki A, Cunningham S, King E, Goldmuntz E, Miller TA, Thomas NH, Adams HR, Cleveland J, Cnota JF, Ellen Grant P, Goldberg CS, Huang H, Li JS, McQuillen P, Porter GA, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Chung WK, Hagler DJ, Newburger JW, Panigrahy A, Lerch JP, Gelb BD, Anagnostou E. Vandewouw MM, et al. Among authors: roberts ae. Neuroimage. 2024 Aug 15;297:120721. doi: 10.1016/j.neuroimage.2024.120721. Epub 2024 Jul 4. Neuroimage. 2024. PMID: 38968977 Free article.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: roberts ae. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
177 results