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2017 6
2018 20
2019 20
2020 9
2021 3
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Page 1
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Jin SC, et al. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. Nat Genet. 2017. PMID: 28991257 Free PMC article.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Pierpont ME, et al. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Circulation. 2018. PMID: 30571578 Free PMC article. Review.
Image processing and analysis methods for the Adolescent Brain Cognitive Development Study.
Hagler DJ Jr, Hatton S, Cornejo MD, Makowski C, Fair DA, Dick AS, Sutherland MT, Casey BJ, Barch DM, Harms MP, Watts R, Bjork JM, Garavan HP, Hilmer L, Pung CJ, Sicat CS, Kuperman J, Bartsch H, Xue F, Heitzeg MM, Laird AR, Trinh TT, Gonzalez R, Tapert SF, Riedel MC, Squeglia LM, Hyde LW, Rosenberg MD, Earl EA, Howlett KD, Baker FC, Soules M, Diaz J, de Leon OR, Thompson WK, Neale MC, Herting M, Sowell ER, Alvarez RP, Hawes SW, Sanchez M, Bodurka J, Breslin FJ, Morris AS, Paulus MP, Simmons WK, Polimeni JR, van der Kouwe A, Nencka AS, Gray KM, Pierpaoli C, Matochik JA, Noronha A, Aklin WM, Conway K, Glantz M, Hoffman E, Little R, Lopez M, Pariyadath V, Weiss SR, Wolff-Hughes DL, DelCarmen-Wiggins R, Feldstein Ewing SW, Miranda-Dominguez O, Nagel BJ, Perrone AJ, Sturgeon DT, Goldstone A, Pfefferbaum A, Pohl KM, Prouty D, Uban K, Bookheimer SY, Dapretto M, Galvan A, Bagot K, Giedd J, Infante MA, Jacobus J, Patrick K, Shilling PD, Desikan R, Li Y, Sugrue L, Banich MT, Friedman N, Hewitt JK, Hopfer C, Sakai J, Tanabe J, Cottler LB, Nixon SJ, Chang L, Cloak C, Ernst T, Reeves G, Kennedy DN, Heeringa S, Peltier S, Schulenberg J, Sripada C, Zucker RA, Iacono WG, Luciana M, Calabro FJ, Clark DB, Lewis DA, Luna B, Schirda C, Brima T, Foxe JJ, Freedman EG, Mruzek DW, Mason MJ, Huber R, McGlade E, Prescot A, Renshaw PF, Yurgelun-Todd DA, Allgaier NA, Dumas JA, Ivanova M, Potter A, Florsheim P, Larson C, Lisdahl K, Charness ME, Fuemmeler B, Hettema JM, Maes HH, Steinberg J, Anokhin AP, Glaser P, Heath AC, Madden PA, Baskin-Sommers A, Constable RT, Grant SJ, Dowling GJ, Brown SA, Jernigan TL, Dale AM. Hagler DJ Jr, et al. Neuroimage. 2019 Nov 15;202:116091. doi: 10.1016/j.neuroimage.2019.116091. Epub 2019 Aug 12. Neuroimage. 2019. PMID: 31415884 Free PMC article.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,, Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ. Mirzaa GM, et al. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190
Enhancer redundancy provides phenotypic robustness in mammalian development.
Osterwalder M, Barozzi I, Tissières V, Fukuda-Yuzawa Y, Mannion BJ, Afzal SY, Lee EA, Zhu Y, Plajzer-Frick I, Pickle CS, Kato M, Garvin TH, Pham QT, Harrington AN, Akiyama JA, Afzal V, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA. Osterwalder M, et al. Nature. 2018 Feb 8;554(7691):239-243. doi: 10.1038/nature25461. Epub 2018 Jan 31. Nature. 2018. PMID: 29420474 Free PMC article.
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Richter F, et al. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. Nat Genet. 2020. PMID: 32601476 Free PMC article. Clinical Trial.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
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