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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: lemons j. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: lemons jm. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
Spiritual Exploration in the Prenatal Genetic Counseling Session.
Sagaser KG, Shahrukh Hashmi S, Carter RD, Lemons J, Mendez-Figueroa H, Nassef S, Peery B, Singletary CN. Sagaser KG, et al. Among authors: lemons j. J Genet Couns. 2016 Oct;25(5):923-35. doi: 10.1007/s10897-015-9920-y. Epub 2016 Jan 15. J Genet Couns. 2016. PMID: 26768895
Trends in sex differences in neurodevelopmental outcomes among extremely preterm infants.
Boghossian NS, Mack NA, Bell EF, Tan S, Stoll BJ, Rysavy MA, Ambalavanan N, Tyson JE, Das A, Hintz SR; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Boghossian NS, et al. Arch Dis Child Fetal Neonatal Ed. 2024 Sep 20:fetalneonatal-2024-327239. doi: 10.1136/archdischild-2024-327239. Online ahead of print. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 39288987
447 results