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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8.
Am J Med Genet A. 2018.
PMID: 30194818
Review.
Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.
Woo YJ, Kanellopoulos AK, Hemati P, Kirschen J, Nebel RA, Wang T, Bagni C, Abrahams BS.
Woo YJ, et al. Among authors: hemati p.
Biol Psychiatry. 2019 Aug 15;86(4):306-314. doi: 10.1016/j.biopsych.2019.04.008. Epub 2019 Apr 17.
Biol Psychiatry. 2019.
PMID: 31202490
Free PMC article.
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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
Epilepsy Genetics Initiative.
Epilepsy Genetics Initiative.
Epilepsia. 2019 May;60(5):797-806. doi: 10.1111/epi.14698. Epub 2019 Apr 5.
Epilepsia. 2019.
PMID: 30951195
Free PMC article.
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.
Petrovski S, et al. Among authors: hemati p.
Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.
Am J Hum Genet. 2016.
PMID: 27108799
Free PMC article.
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM.
Hiatt SM, et al. Among authors: hemati p.
PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.
PLoS Genet. 2018.
PMID: 30500825
Free PMC article.
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4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency.
Hemati P, du Souich C, Boerkoel CF.
Hemati P, et al.
Am J Med Genet A. 2015 Jan;167A(1):231-7. doi: 10.1002/ajmg.a.36821. Epub 2014 Oct 29.
Am J Med Genet A. 2015.
PMID: 25355368
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Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K.
Revah-Politi A, et al. Among authors: hemati p.
Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22.
Am J Med Genet A. 2017.
PMID: 28941020
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