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Year Number of Results
1993 1
2005 1
2013 1
2014 2
2017 3
2018 3
2019 6
2020 12
2021 12
2022 7
2023 1
2024 3
2025 1

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39 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: stutterd c. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861 Free PMC article.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Among authors: stutterd c. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free article.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Adang LA, et al. Among authors: stutterd ca. Mol Genet Metab. 2024 Aug;142(4):108521. doi: 10.1016/j.ymgme.2024.108521. Epub 2024 Jun 29. Mol Genet Metab. 2024. PMID: 38964050 Free PMC article.
Polymicrogyria Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Stutterd CA, Dobyns WB, Jansen A, Mirzaa G, Leventer RJ. Stutterd CA, et al. 2005 Apr 18 [updated 2018 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Apr 18 [updated 2018 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301504 Free Books & Documents. Review.
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: stutterd c. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Among authors: stutterd ca. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article. Review.
Advances in genomic testing.
Donoghue S, Downie L, Stutterd C. Donoghue S, et al. Among authors: stutterd c. Aust Fam Physician. 2017;46(4):200-205. Aust Fam Physician. 2017. PMID: 28376572 Free 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: stutterd c. Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6. Hum Mutat. 2022. PMID: 36030538
39 results