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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18.
Nat Genet. 2022.
PMID: 35982159
Free PMC article.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium; Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK.
Feliciano P, et al.
NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019.
NPJ Genom Med. 2019.
PMID: 31452935
Free PMC article.
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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y.
Qi H, et al. Among authors: kitaygorodsky a.
PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.
PLoS Genet. 2018.
PMID: 30532227
Free PMC article.
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Beliefs in vaccine as causes of autism among SPARK cohort caregivers.
Fombonne E, Goin-Kochel RP, O'Roak BJ; SPARK Consortium.
Fombonne E, et al.
Vaccine. 2020 Feb 11;38(7):1794-1803. doi: 10.1016/j.vaccine.2019.12.026. Epub 2020 Jan 8.
Vaccine. 2020.
PMID: 31924427
Free PMC article.
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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. Among authors: kitaygorodsky a.
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.
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Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE.
Morton SU, et al. Among authors: kitaygorodsky a.
Circ Genom Precis Med. 2022 Apr;15(2):e003500. doi: 10.1161/CIRCGEN.121.003500. Epub 2022 Feb 7.
Circ Genom Precis Med. 2022.
PMID: 35130025
Free PMC article.
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Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.
Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W; SPARK Consortium.
Fombonne E, et al.
J Autism Dev Disord. 2020 Oct;50(10):3679-3698. doi: 10.1007/s10803-020-04414-6.
J Autism Dev Disord. 2020.
PMID: 32096123
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