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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: keena ba. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Robinow syndrome: a diagnosis at the fingertips.
Murali CN, Keena B, Zackai EH. Murali CN, et al. Clin Dysmorphol. 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. Clin Dysmorphol. 2018. PMID: 29864040 Free PMC article.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA. Cohen JL, et al. Am J Med Genet A. 2020 Dec;182(12):2926-2938. doi: 10.1002/ajmg.a.61883. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043588
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Fasham J, et al. Among authors: keena b. Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906488 Free PMC article.
26 results