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DLG4-related synaptopathy: a new rare brain disorder.
Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.
Genet Med. 2021.
PMID: 33597769
Free article.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K.
Kushary ST, et al.
Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31.
Am J Med Genet A. 2021.
PMID: 34331327
Free PMC article.
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Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Lippa N, Bier L, Revah-Politi A, May H, Kushary S, Vena N, Giordano JL, Rasouly HM, Cocchi E, Sands TT, Wapner RJ, Anyane-Yeboa K, Gharavi AG, Goldstein DB.
Lippa N, et al. Among authors: kushary s.
Genet Med. 2022 Apr;24(4):862-869. doi: 10.1016/j.gim.2021.12.010. Epub 2022 Jan 22.
Genet Med. 2022.
PMID: 35078725
Free article.
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V.
Ernst ME, et al. Among authors: kushary s.
Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26.
Epilepsia. 2021.
PMID: 34041744
Free PMC article.
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Genetic testing in individuals with cerebral palsy.
May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team; Roye DP Jr, Goldstein DB, Carmel JB.
May HJ, et al.
Dev Med Child Neurol. 2021 Dec;63(12):1448-1455. doi: 10.1111/dmcn.14948. Epub 2021 Jun 10.
Dev Med Child Neurol. 2021.
PMID: 34114234
Free PMC article.
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Assessment of a novel genetic counselling intervention to inform assisted reproductive technology treatments and other family-building options in adults with cystic fibrosis.
Kushary S, Ali N, Spencer JB, Dokson J, Hunt WR.
Kushary S, et al.
Reprod Biomed Soc Online. 2021 Jun 4;13:37-45. doi: 10.1016/j.rbms.2021.05.001. eCollection 2021 Aug.
Reprod Biomed Soc Online. 2021.
PMID: 34195396
Free PMC article.
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