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Page 1
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: gardiner f. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR. Datta AN, et al. Among authors: gardiner f. Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410528 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: gardiner fj. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: gardiner f. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z, Lin S, Zhao X, Bennett MF, Brown NJ, Wallis M, Gao X, Sun L, Wu J, Vedururu R, Witkowski T, Gardiner F, Stutterd C, Duan J, Mullen SA, McGillivray G, Bodek S, Valente G, Reagan M, Yao Y, Li L, Chen L, Boys A, Adikari TN, Cao D, Hu Z, Beshay V, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: gardiner f. Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6. Hum Mutat. 2022. PMID: 36030538
A novel COVID-19 program, delivering vaccines throughout rural and remote Australia.
Gardiner FW, Schofield Z, Hendry M, Jones K, Smallacombe M, Steere M, Beach J, MacIsaac M, Greenberg R, Crawford C, Trivett M, Morris J, Spring B, Quinlan F, Churilov L, Rallah-Baker K, Gardiner E, O'Donnell J. Gardiner FW, et al. Front Public Health. 2023 Jul 17;11:1019536. doi: 10.3389/fpubh.2023.1019536. eCollection 2023. Front Public Health. 2023. PMID: 37529430 Free PMC article.
The Gender-Diversity and Autism Questionnaire: A Community-Developed Clinical, Research, and Self-Advocacy Tool for Autistic Transgender and Gender-Diverse Young Adults.
Strang JF, McClellan LS, Raaijmakers D, Caplan R, Klomp SE, Reutter M, Lai MC, Song M, Gratton FV, Dale LK, Schutte A, de Vries ALC, Gardiner F, Edwards-Leeper L, Minnaard AL, Eleveld NL, Corbin E, Purkis Y, Lawson W, Kim DY, van Wieringen IM, Rodríguez-Roldán VM, Harris MC, Wilks MF, Abraham G, Balleur-van Rijn A, Brown LXZ, Forshaw A, Wilks GB, Griffin AD, Graham EK, Krause S, Pervez N, Bok IA, Song A, Fischbach AL, van der Miesen AIR. Strang JF, et al. Among authors: gardiner f. Autism Adulthood. 2023 Jun 1;5(2):175-190. doi: 10.1089/aut.2023.0002. Epub 2023 Jun 13. Autism Adulthood. 2023. PMID: 37346994
Western Australia remote aeromedical substance use disorders outcomes.
Faint N, Coleman M, Spring B, Richardson A, Thornton A, Bacon D, Kumaradevan S, Gardiner FW. Faint N, et al. Among authors: gardiner fw. Intern Med J. 2024 Jan;54(1):86-95. doi: 10.1111/imj.16140. Epub 2023 Jun 12. Intern Med J. 2024. PMID: 37255269
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