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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20.
Genet Med. 2023.
PMID: 36549593
Free article.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.
Magini P, et al. Among authors: shahar nr.
Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.
Am J Hum Genet. 2019.
PMID: 31495489
Free PMC article.
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High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.
Abu Shtaya A, Orenstein N, Bazak L, Lidzbarsky G, Kalis ML, Amarilyo G, Sofrin-Drucker E, Jaron R, Shahar NR, Gilad NK, Basel-Salmon L.
Abu Shtaya A, et al. Among authors: shahar nr.
Pediatr Res. 2024 May 11. doi: 10.1038/s41390-024-03242-z. Online ahead of print.
Pediatr Res. 2024.
PMID: 38734812
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